Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.L72fs
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ERCC6

NM_000124.4:p.L72fs

Associated Papers

Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease.

Vessoni AT et al.

Genetics and Molecular Biology, 2020

32453336 (PubMed )
Supplement: 1415-4757-GMB-43-1-s1-e20190085-suppl1.pdf

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

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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."