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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Autosomal dominant nonsyndromic hearing loss 16
GPathogenic
STRC
Deletion
Autosomal dominant nonsyndromic hearing loss 16
GPathogenic
STRC
(R1391G)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+3 more
GConflicting classifications of pathogenicity
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