Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

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 sig...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Proc Natl Acad Sci U S A
Κύριοι συγγραφείς: Li, Chong, Bademci, Guney, Subasioglu, Asli, Diaz-Horta, Oscar, Zhu, Yi, Liu, Jiaqi, Mitchell, Timothy Gavin, Abad, Clemer, Seyhan, Serhat, Duman, Duygu, Cengiz, Filiz Basak, Tokgoz-Yilmaz, Suna, Blanton, Susan H., Farooq, Amjad, Walz, Katherina, Zhai, R. Grace, Tekin, Mustafa
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: National Academy of Sciences 2019
Θέματα:
Biological Sciences
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6347722/
https://ncbi.nlm.nih.gov/pubmed/30610177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1810951116
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