Varaico: Literature-Extracted Genetic Variants

Gene:FRG1
Variant:p.I132V
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FRG1

NM_004477.3:p.I132V

Associated Papers

UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Saini N et al.

Plos Genetics, 2021

33444353 (PubMed )
Supplement: pgen.1009302.s014.xlsx › S5_Table

Proteogenomic Analysis Unveils the HLA Class I-Presented Immunopeptidome in Melanoma and EGFR-Mutant Lung Adenocarcinoma.

Qi YA et al.

Molecular & Cellular Proteomics : Mcp, 2021

34391887 (PubMed )
Supplement: mmc3.xlsx › RA007.all.somatic

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1

Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.

Wieben ED et al.

Investigative Ophthalmology & Visual Science, 2019

31469403 (PubMed )
Supplement: iovs-60-10-11_s03.pdf
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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."