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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(R75Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
GJB2
(R75W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic