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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDHA1

Variant:p.C261insFs

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PDHA1

NM_000284.4:p.C261insFs

hg38:chrX:19355707 T>TG

Associated Papers

Dosage Compensation in Females with X-Linked Metabolic Disorders.

Juchniewicz P et al.

International Journal of Molecular Sciences, 2021

33925963 (PubMed )

Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S3.pdf

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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."