Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.R227C
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ERCC2

NM_000400.4:p.R227C

Associated Papers

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2

Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.

Al Saati A et al.

International Journal of Molecular Sciences, 2023

Identification of Damaging nsSNVs in HumanERCC2 Gene.

Fang S et al.

Chemical Biology & Drug Design, 2016

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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."