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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6V0D1

Variant:p.Q145L

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ATP6V0D1

NM_004691.5:p.Q145L

hg38:chr16:67444575 T>A

Associated Papers

Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.

Muroi J et al.

Human Genetics, 2000

11129331 (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."