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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDHA1

Variant:p.Y156F

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PDHA1

NM_000284.4:p.Y156F

hg38:chrX:19353130 A>T

Associated Papers

Mitochondrial diseases in North America: An analysis of the NAMDC Registry.

Barca E et al.

Neurology. Genetics, 2020

32337332 (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."