Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.P696L
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ERCC4

NM_005236.3:p.P696L

Associated Papers

Genetic architecture of multiple primary cutaneous melanoma in the absence of high-penetrance susceptibility genes.

Johansson PA et al.

The Journal of Investigative Dermatology, 2026

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Schmidt A et al.

Nature Genetics, 2024

39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1

Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.

Tsutakawa SE et al.

Frontiers in Molecular Biosciences, 2021

34966786 (PubMed )
Supplement: Table3.XLSX › ERCC4
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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."