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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHOC2
(M173V)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GConflicting classifications of pathogenicity
SHOC2
(Q269R)
Single nucleotide variant
(missense variant +2 more)
not specified
+5 more
GConflicting classifications of pathogenicity
SHOC2
(S2G)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
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