Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0C
Variant:p.A149T
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ATP6V0C

NM_001694.4:p.A149T

Associated Papers

Neoantigen landscape supports feasibility of personalized cancer vaccine for follicular lymphoma.

Ramirez CA et al.

Blood Advances, 2024

38713894 (PubMed )
Supplement: BLOODA_ADV-2022-007792-mmc6.xlsx › Supp_Table6

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

Zhao S et al.

Journal of Human Genetics, 2023

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

Mattison KA et al.

Brain : a Journal of Neurology, 2023

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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."