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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6V1A

Variant:p.M95K

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ATP6V1A

NM_001690.4:p.M95K

hg38:chr3:113784296 T>A

Associated Papers

ATP6V1A variants are associated with childhood epilepsy with favorable outcome.

Li B et al.

Seizure, 2024

37574426 (PubMed )

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.

Vogt G et al.

Journal of Inherited Metabolic Disease, 2021

33320377 (PubMed )

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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."