Varaico: Literature-Extracted Genetic Variants

Gene:LRTOMT
Variant:p.R52W
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LRTOMT

NM_001145308.5:p.R52W

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

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

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.

Khan A et al.

Molecular Genetics & Genomic Medicine, 2019

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

Wang R et al.

Genetic Testing and Molecular Biomarkers, 2017

[Genetic counseling and intervention for families with deaf-mute patients based on genetic testing: analysis of 5 families].

Dai P et al.

Zhonghua Yi Xue Za Zhi, 2007

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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."