Varaico: Literature-Extracted Genetic Variants

Gene:FANCL
Variant:p.K96N
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FANCL

NM_018062.4:p.K96N

Associated Papers

Germline Variants in DNA Interstrand-Cross Link Repair Genes May Contribute to Increased Susceptibility for Serrated Polyposis Syndrome.

Silva P et al.

International Journal of Molecular Sciences, 2024

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_5

Clinical outcome and biomarker assessments of a multi-centre phase II trial assessing niraparib with or without dostarlimab in recurrent endometrial carcinoma.

Madariaga A et al.

Nature Communications, 2023

36922497 (PubMed )
Supplement: 41467_2023_37084_MOESM1_ESM.pdf

The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.

BenAyed-Guerfali D et al.

Genes, 2022

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S9._Germline_VUS

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Ferrer-Avargues R et al.

Cancer Communications (london, England), 2021

33630411 (PubMed )
Supplement: CAC2-41-218-s001.xlsx › Table_S3_

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel

CharGer: clinical Characterization of Germline variants.

Scott AD et al.

Bioinformatics (oxford, England), 2019

30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2
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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."