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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSH1

Variant:p.V206_R209del0

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CSH1

NM_001317.6:p.V206_R209del0

hg38:chr17:63895049 GCGGCACTGC>G

Associated Papers

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

Laugel V et al.

Human Mutation, 2010

19894250 (PubMed )

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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."