Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.F614S
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XPC

NM_004628.5:p.F614S

Associated Papers

Structural modeling and analyses of genetic variations in the human XPC nucleotide excision repair protein.

Le J et al.

Journal of Biomolecular Structure & Dynamics, 2023

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

Adeyemo A et al.

European Journal of Human Genetics : Ejhg, 2022

34837038 (PubMed )
Supplement: 41431_2021_984_MOESM3_ESM.xlsx › Variants_detected

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC et al.

Nature Communications, 2018

30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
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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."