Same mutation
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Nucleotide Change
Amino Acid Substitution
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Type 2A 4789C>T R1597W No USA Robert Montgomery
Type 2A 4789C>T R1597W No
Type 2A 4789C>T R1597W ? Japan Fukutake
Type 2A 4789C>T R1597W ? Sixma
Type 2A 4789C>T R1597W ?
Type 2A 4789C>T R1597W ? England Peake
Type 2A 4789C>T R1597W No
Type 2A 4789C>T R1597W Yes US/France Ginsburg Group 2 mutation.
Type 2A 4789C>T R1597W ? Japan Saito
Type 2A 4789C>T R1597W No Spain / Romania Vidal Heterozygous mutation identified in two More ...