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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:XRCC1

Variant:p.Q619*

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XRCC1

NM_006297.3:p.Q619*

hg38:chr19:43543439 G>A

Associated Papers

Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.

Russell-Goldman E et al.

The American Journal of Dermatopathology, 2022

35830698 (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."