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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRPPA

Variant:p.C249*

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CRPPA

NM_001101426.4:p.C249*

hg38:chr7:16308565 G>T

Associated Papers

A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the CRPPA gene: a case report and literature review.

Zhang S et al.

Translational Pediatrics, 2025

40800181 (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."