Varaico: Literature-Extracted Genetic Variants

Gene:OTOGL
Variant:p.R159W
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OTOGL

NM_001378609.3:p.R159W

Associated Papers

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.

Riahi Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

41359850 (PubMed )
Supplement: pnas.2518445122.sapp.pdf

Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays.

Rosso LE et al.

Biomedicines, 2025

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