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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMTC4
(A192V +2 more)
Single nucleotide variant
(missense variant +1 more)
Hearing loss, autosomal recessive 122
GPathogenic
TMTC4
(E183K +1 more)
Single nucleotide variant
(missense variant +2 more)
Hearing loss, autosomal recessive 122
GPathogenic