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Comments |
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Type 2A
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4517C>T
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S1506L
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?
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Israel
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Inbal
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Type 3
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Exon 18 deletion
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?
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?
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Italy
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Schneppenheim
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1 index patient is heterozygous for Delt More ...
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Type 2A
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4942C>T
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P1648S
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?
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Type 2B
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3946G>A
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V1316M
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?
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US
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Montgomery
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Type 2A
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4883T>C
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I1628T
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?
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Also reported as polymorphism in French More ...
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Type 2B
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3946G>A
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V1316M
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?
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Canada
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Lillicrap
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Germinal Mosaic
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Type 2A
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4517C>T
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S1506L
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?
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Daly
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Type 3
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Exon 18 deletion
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?
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?
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Poland
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Schneppenheim
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4 index patients are homozygous for Delt More ...
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Type 2M
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3614G>A
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R1205H
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?
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Italy
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Schneppenheim
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Found also in one German patient and in More ...
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Type 2B
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3946G>A
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V1316M
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?
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Type 3
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2435delC
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P812RfsX31
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?
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Germany
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Schneppenheim
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2 patients were homozygous, 3 were heter More ...
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Type 2N
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2372C>T
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T791M
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?
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Germany
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Schneppenheim
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Type 2A
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4789C>T
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R1597W
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?
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Japan
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Saito
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Type 2N
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3178T>C
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C1060R
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?
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France
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Mazurier
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One patient is homozygous, the others ar More ...
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Type 3
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4886delG
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1629 frameshift to terminus
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?
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Germany
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Schneppenheim
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Patient was heterozygous.
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Type 2B
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3797C>T
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P1266L
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?
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Germany
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Ruggeri
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Investigated four patients from three un More ...
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Unclassified
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4135C>T
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R1379C
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?
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Spain
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Casana
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Type 2A
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4789C>T
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R1597W
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?
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England
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Peake
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Type 2B
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4022G>A
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R1341Q
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?
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Type 3
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7603C>T
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R2535X
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?
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Germany
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Schneppenheim
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One patient was homozygous.
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