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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PYROXD1

Variant:p.E496del1

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PYROXD1

NM_024854.5:p.E496del1

hg38:chr12:21468735 TAGA>T

Associated Papers

A rare case of myopathy with fatigability due to PYROXD1 variation.

Baskar D et al.

Journal of Neuromuscular Diseases, 2025

39973409 (PubMed )

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Evesson FJ et al.

Human Molecular Genetics, 2023

36920481 (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."