Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.H244Y
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ERCC8

NM_000082.4:p.H244Y

Associated Papers

Hepatotoxicity of metronidazole in Cockayne syndrome: A clinical report.

Hunaut T et al.

European Journal of Medical Genetics, 2022

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Duerinckx S et al.

Molecular Genetics & Genomic Medicine, 2021

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

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Calmels N et al.

Orphanet Journal of Rare Diseases, 2016

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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."