Varaico: Literature-Extracted Genetic Variants

Gene:CRPPA
Variant:p.K263_V264Splc
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CRPPA

NM_001101426.4:p.K263_V264Splc

Associated Papers

Correspondence on "Genome sequencing reveals the impact of pseudoexons in rare genetic disease" by Pitsava et al.

Canson DM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026

Genome sequencing reveals the impact of pseudoexons in rare genetic disease.

Pitsava G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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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."