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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
Contains
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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
Type 2M
3835G>A
V1279I
Yes
France
French Network
Type 1
3835G>A
V1279I
No
Netherlands
Bertina
Patients heterozygous, second allele no
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Type 2M
3835G>A
V1279I
Yes
USA
Montgomery
Present on same allele as 3797C>A. Previ
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Type 1
3835G>A
V1279I
No
Canada
Lillicrap
Occurred with a frequency of 0.4 in unaf
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Type 3
3835G>A
V1279I
No
Pakistan
Vidal
Identified as part of a homozygous gene
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