Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A2
Variant:p.M1V
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ATP6V0A2

NM_012463.4:p.M1V

Associated Papers

Rare gelastic seizure associated with ATP6V0A2 gene variants in a patient with ARCLII.

Zhang X et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2024

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
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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."