Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.V623fs
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ERCC2

NM_000400.4:p.V623fs

Associated Papers

TFIIH central activity in nucleotide excision repair to prevent disease.

Theil AF et al.

Dna Repair, 2023

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.

Lanzafame M et al.

Human Mutation, 2022

Evaluation of immunological abnormalities in patients with rare syndromes.

Gul Y et al.

Central-european Journal of Immunology, 2022

Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.

Gargallo P et al.

Cancers, 2021

34771502 (PubMed )
Supplement: cancers-13-05339-s001.zip › cancers-1401869-supplementary.xlsx › supplementary_material3
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