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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDHA1

Variant:p.K387*

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PDHA1

NM_000284.4:p.K387*

hg38:chrX:19359639 A>T

Associated Papers

Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.

van Dongen S et al.

Jimd Reports, 2015

24718837 (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."