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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDHA1

Variant:p.K387insFs

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PDHA1

NM_000284.4:p.K387insFs

hg38:chrX:19359638 T>TA

Associated Papers

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.

Quintana E et al.

Clinical Genetics, 2010

20002461 (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."