Varaico: Literature-Extracted Genetic Variants

Gene:LRTOMT
Variant:p.W105R
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LRTOMT

NM_001145309.4:p.W105R

Associated Papers

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.

Sarmadi A et al.

Bmc Medical Genetics, 2020

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

Riahi Z et al.

Plos One, 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."