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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRPPA

Variant:p.K263_V264Splc

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CRPPA

NM_001101426.4:p.K263_V264Splc

hg38:chr7:16301490 A>G

Associated Papers

CRPPA exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy.

Luo J et al.

Pediatric Investigation, 2026

41726576 (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."