Varaico: Literature-Extracted Genetic Variants

Gene:CPA6
Variant:p.R36H
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CPA6

NM_020361.5:p.R36H

Associated Papers

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Kablan A et al.

Clinical Genetics, 2025

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.

Jauss RT et al.

Genes, 2022

36553572 (PubMed )
Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1

Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.

Sapio MR et al.

Plos One, 2015

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