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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6V1B2

Variant:p.L398P

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ATP6V1B2

NM_001693.4:p.L398P

hg38:chr8:20217251 T>C

Associated Papers

The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.

Rousseau J et al.

Genes, 2023

37628590 (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."