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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN15

Variant:p.G653S

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CAPN15

NM_005632.3:p.G653S

hg38:chr16:549729 G>A

Associated Papers

Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic Variants.

Lin E et al.

American Journal of Medical Genetics. Part A, 2025

40485323 (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."