Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.K431fs
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XPC

NM_004628.5:p.K431fs

Associated Papers

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.

Ding X et al.

Clinical and Translational Medicine, 2024

39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.

Khan SG et al.

Dna Repair, 2009

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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."