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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SFRP4
(C125S)
Single nucleotide variant
(missense variant)
Pyle metaphyseal dysplasia
GLikely pathogenic
SFRP4
(A54D)
Single nucleotide variant
(missense variant)
Pyle metaphyseal dysplasia
GLikely pathogenic