Varaico: Literature-Extracted Genetic Variants

Gene:LRTOMT
Variant:p.E110K
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LRTOMT

NM_001145308.5:p.E110K

Associated Papers

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

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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