Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.D57Y
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OTOF

NM_194248.3:p.D57Y

Associated Papers

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

Almontashiri NAM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."