Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.R340fs
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PDHA1

NM_001173454.2:p.R340fs

Associated Papers

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Puusepp S et al.

Molecular Genetics and Metabolism Reports, 2018

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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."