Varaico: Literature-Extracted Genetic Variants

Gene:FANCL
Variant:p.Q99delFs
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FANCL

NM_018062.4:p.Q99delFs

Associated Papers

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_3.

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2B.Vars_in_CPGSs_MMRF

Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.

Rezaei M et al.

The Journal of Clinical Investigation, 2024

39545410 (PubMed )
Supplement: jci-134-170669-s068.xlsx › Supplemental_Table_2

Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.

Thibaud S et al.

Blood Cancer Discovery, 2024

39283238 (PubMed )
Supplement: bcd-23-0208_supplementary_table_2_suppst2.xlsx › Supplementary_Table_2

Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.

Faria JP et al.

Breast Cancer Research and Treatment, 2024

Evaluating the prevalence of inborn errors of immunity in adults with chronic immune thrombocytopenia or Evans syndrome.

Jiang D et al.

Blood Advances, 2023

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Toward automation of germline variant curation in clinical cancer genetics.

Ravichandran V et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S7
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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."