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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDHX

Variant:p.R12_L13Fs

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PDHX

NM_003477.3:p.R12_L13Fs

hg38:chr11:34916691 GC>G

Associated Papers

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.

Semplicini C et al.

Neurology, 2015

25862795 (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."