Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.S507_K508del1
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XPC

NM_004628.5:p.S507_K508del1

Associated Papers

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L et al.

Orphanet Journal of Rare Diseases, 2012

22908982 (PubMed )
Supplement: 1750-1172-7-52-S3.xlsx › Feuil1
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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."