Varaico: Literature-Extracted Genetic Variants

Gene:CAPN5
Variant:p.R53*
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CAPN5

NM_004055.5:p.R53*

Associated Papers

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ et al.

Npj Genomic Medicine, 2024

38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases

Screening of genes interacting with high myopia and neuropsychiatric disorders.

Liu Y et al.

Scientific Reports, 2023

37884635 (PubMed )
Supplement: 41598_2023_45463_MOESM1_ESM.zip › Supplementary-PDF › Supplementary_Table_5.pdf

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.

Wert KJ et al.

Human Mutation, 2019

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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."