Varaico: Literature-Extracted Genetic Variants

Gene:CAPN15
Variant:p.A913fs
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CAPN15

NM_005632.3:p.A913fs

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

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.

Mor-Shaked H et al.

Clinical Genetics, 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."