Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.L383F
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WRN

NM_000553.6:p.L383F

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Wong S et al.

Embo Molecular Medicine, 2023

37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Compound_Hets

Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.

Fares E et al.

Frontiers in Genetics, 2023

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Fidalgo F et al.

Plos One, 2022

Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.

Bakos B et al.

Bmc Cancer, 2021

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AR

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Castellanos E et al.

Scientific Reports, 2017

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC7_ERR166315

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1907.666
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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."