Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.K286*
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ERCC8

NM_000082.4:p.K286*

Associated Papers

Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures.

Chen J et al.

Frontiers in Genetics, 2025

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.

Ding X et al.

Clinical and Translational Medicine, 2024

39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3
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