Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.M1T
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ATP6V0A4

NM_020632.3:p.M1T

Associated Papers

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

Yalcouyé A et al.

Hgg Advances, 2025

39663698 (PubMed )
Supplement: mmc3.pdf

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.

Gómez J et al.

Pediatric Research, 2016

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.

Nagara M et al.

Genetic Testing and Molecular Biomarkers, 2014

Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss.

Yashima T et al.

Acta Oto-laryngologica, 2010

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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."