Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.V161Splc
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ERCC8

NM_000082.4:p.V161Splc

Associated Papers

Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.

Yousefipour F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

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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."