Varaico: Literature-Extracted Genetic Variants

Gene:CAPN15
Variant:p.L865P
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CAPN15

NM_005632.3:p.L865P

Associated Papers

Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.

Beaman MM et al.

American Journal of Medical Genetics. Part A, 2023

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.

Beaman M et al.

Journal of Personalized Medicine, 2022

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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."