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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT74
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant wooly hair
GPathogenic
KRT74
(N148K)
Single nucleotide variant
(missense variant)
Autosomal dominant wooly hair
GPathogenic