Same mutation
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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 More ...
Type 2M 3835G>A V1279I Yes USA Montgomery Present on same allele as 3797C>A. Previ More ...
Type 1 3835G>A V1279I No Canada Lillicrap Occurred with a frequency of 0.4 in unaf More ...
Type 3 3835G>A V1279I No Pakistan Vidal Identified as part of a homozygous gene More ...