Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.A160T
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ERCC8

NM_000082.4:p.A160T

Associated Papers

Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.

Cortes-Urrea C et al.

Biomolecules, 2020

32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations

Cockayne syndrome in adults: complete retinal dysfunction exploration of two case reports.

Figueras-Roca M et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2019

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.

Wang X et al.

Scientific Reports, 2017

Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome.

Baez S et al.

Frontiers in Aging Neuroscience, 2013

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V et al.

Human Mutation, 2010

The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.

Saijo M

Mechanisms of Ageing and Development, 0

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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."