Varaico: Literature-Extracted Genetic Variants

Gene:WHRN
Variant:p.R423*
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WHRN

NM_015404.4:p.R423*

Associated Papers

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L et al.

Investigative Ophthalmology & Visual Science, 2021

33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S5_Usher

Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review.

Sidenna M et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

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

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

Ben-Salem S et al.

Molecular Biology Reports, 2014

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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."