Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514419
rs397514419
BTD
A 0.800 CausalMutation CLINVAR Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. 9654207

1998