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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOST
(V21L)
Single nucleotide variant
(missense variant)
Craniodiaphyseal dysplasia, autosomal dominant
GPathogenic
SOST
(V21M)
Single nucleotide variant
(missense variant)
SOST-related condition
GLikely pathogenic