Varaico: Literature-Extracted Genetic Variants

Gene:CNPY3
Variant:p.Q165_C166Splc
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CNPY3

NM_006586.5:p.Q165_C166Splc

Associated Papers

The role of canopy family proteins: biological mechanism and disease function.

Li X et al.

Molecular Biology Reports, 2025

Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.

Mutoh H et al.

American Journal of Human Genetics, 2018

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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."