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Links from PubMed

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(W172C)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(W172R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GJB2
Single nucleotide variant
(splice acceptor variant)
Nonsyndromic genetic hearing loss
GLikely pathogenic
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