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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DDB1

Variant:p.R722W

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DDB1

NM_001923.5:p.R722W

hg38:chr11:61311897 T>A

Associated Papers

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

Cleaver JE et al.

Human Mutation, 1999

10447254 (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."