Varaico: Literature-Extracted Genetic Variants

Gene:EVPL
Variant:p.C758S
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EVPL

NM_001988.4:p.C758S

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13

Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.

Fares E et al.

Frontiers in Genetics, 2023

38028607 (PubMed )
Supplement: Table1.XLSX › Sheet1

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.

Taylan F et al.

The Journal of Allergy and Clinical Immunology, 2015

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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."