Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.P1042L
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ERCC6

NM_000124.4:p.P1042L

Associated Papers

Current and emerging roles of Cockayne syndrome group B (CSB) protein.

Tiwari V et al.

Nucleic Acids Research, 2021

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Calmels N et al.

Journal of Medical Genetics, 2018

Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress.

Kristensen U et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

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

Laugel V et al.

Human Mutation, 2010

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.

Cleaver JE et al.

Nature Reviews. Genetics, 2009

An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome.

Newman JC et al.

Plos Genetics, 2008

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

Mallery DL et al.

American Journal of Human Genetics, 1998

Structure, function and regulation of CSB: a multi-talented gymnast.

Lake RJ et al.

Mechanisms of Ageing and Development, 0

Cockayne syndrome pathogenesis: lessons from mouse models.

Jaarsma D et al.

Mechanisms of Ageing and Development, 0

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