Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0C
Variant:p.R119W
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ATP6V0C

NM_001694.4:p.R119W

Associated Papers

ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay.

Zhao S et al.

Journal of Human Genetics, 2023

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S6T2
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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."