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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PYROXD1

Variant:p.Q372Q

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PYROXD1

NM_024854.5:p.Q372Q

hg38:chr12:21462862 G>A

Associated Papers

Clinical, histological, and genetic characterization of PYROXD1-related myopathy.

Lornage X et al.

Acta Neuropathologica Communications, 2019

31455395 (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."