Varaico: Literature-Extracted Genetic Variants

Gene:CRPPA
Variant:p.S258*
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CRPPA

NM_001101426.4:p.S258*

Associated Papers

Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration.

Yang H et al.

Frontiers in Pediatrics, 2021

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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."