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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GREB1L
(Q1456H)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 80
+1 more
GPathogenic
GREB1L, LOC101927521
(R328*)
Single nucleotide variant
(nonsense)
Inner ear malformation
+1 more
GPathogenic