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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRPPA

Variant:p.S373del1

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CRPPA

NM_001101426.4:p.S373del1

hg38:chr7:16258389 CTGA>C

Associated Papers

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.

van Tol W et al.

Clinical Chemistry, 2019

31375477 (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."