Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.F185S
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ATP6V0A4

NM_020632.3:p.F185S

Associated Papers

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Tollefson MR et al.

Human Genetics, 2023

37086329 (PubMed )
Supplement: 439_2023_2559_MOESM3_ESM.xlsx › Sheet1

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.

Alonso-Varela M et al.

Pediatric Nephrology (berlin, Germany), 2018

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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."