Varaico: Literature-Extracted Genetic Variants

Gene:LRTOMT
Variant:p.R81Q
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LRTOMT

NM_001145308.5:p.R81Q

Associated Papers

Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.

Salame M et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2023

Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.

Mosrati MA et al.

Molecular Genetics & Genomic Medicine, 2021

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

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D et al.

Human Genetics, 2016

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."