Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.R1318fs
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ERCC6

NM_000124.4:p.R1318fs

Associated Papers

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.

Gug M et al.

International Journal of Molecular Sciences, 2025

41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf

Molecular characterization of diffuse malignant peritoneal mesothelioma.

Hung YP et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Calmels N et al.

Journal of Medical 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."