We have identified a GRAP variant (c.311A>T; p.Gln104Leu) cosegregating with autosomal recessive nonsyndromic deafness in two unrelated families. GRAP encodes a member of the highly conserved growth factor receptor-bound protein 2 (GRB2)/Sem-5/drk family of proteins, which are involved in Ras signaling; however, the function of the growth factor receptor-bound protein...
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Τρίτη 22 Ιανουαρίου 2019
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss [Genetics]
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