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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHOC2
(M173V)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GConflicting classifications of pathogenicity
SHOC2
(S2G)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
GPathogenic