Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.A459V
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ERCC5

NM_000123.4:p.A459V

Associated Papers

Hedgehog Pathway Alterations Downstream of Patched-1 Are Common in Infundibulocystic Basal Cell Carcinoma.

Russell-Goldman E et al.

The American Journal of Dermatopathology, 2021

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 › ERCC5

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1635.580
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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."