Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.G446D
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ERCC6

NM_000124.4:p.G446D

Associated Papers

Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.

Wąsowska A et al.

Genes, 2023

37761846 (PubMed )
Supplement: genes-14-01707-s001.zip › genes-2482546-supplementary › Supplementary_Table_S1.xlsx › Rare_variants

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1

Role for Nucleotide Excision Repair Gene Variants in Oxaliplatin-Induced Peripheral Neuropathy.

West H et al.

Jco Precision Oncology, 2018

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Calmels N et al.

Orphanet Journal of Rare Diseases, 2016

27004399 (PubMed )
Supplement: 13023_2016_408_MOESM1_ESM.xlsx › Feuil1

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
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