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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USP48
(E328K)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 85
GUncertain significance
USP48
(T672L +2 more)
Indel
(missense variant)
Hearing loss, autosomal dominant 85
GPathogenic
USP48
(G405R)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 85
GPathogenic
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