Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

Authors: Migliosi, V  Modamio-Hoybjor, S  Moreno-Pelayo, MA  Rodriguez-Ballesteros, M  Villamar, M  Telleria, D  Menendez, I  Moreno, F  Del Castillo, I 
Citation: Migliosi V, etal., J Med Genet. 2002 Jul;39(7):502-6.
Pubmed: (View Article at PubMed) PMID:12114484

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CRRD Object Information
CRRD ID: 9479156
Created: 2014-08-27
Species: All species
Last Modified: 2014-08-27
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.