Varaico: Literature-Extracted Genetic Variants

Gene:EVC
Variant:p.L356L
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EVC

NM_153717.3:p.L356L

Associated Papers

Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis.

Cai J et al.

Signal Transduction and Targeted Therapy, 2024

39307879 (PubMed )
Supplement: 41392_2024_1960_MOESM6_ESM.xlsx › Table_S5

A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.

Chear CT et al.

Genes, 2022

36292785 (PubMed )
Supplement: genes-13-01900-s001.zip › genes-1944565-supplementary.pdf

Molecular mechanisms of Ellis‑van Creveld gene variations in ventricular septal defect.

Liu F et al.

Molecular Medicine Reports, 2018

Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.

Takamine Y et al.

American Journal of Medical Genetics. Part A, 2004

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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."