Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.R517W
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FANCA

NM_000135.4:p.R517W

Associated Papers

Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.

Vande Perre P et al.

International Journal of Molecular Sciences, 2025

40429818 (PubMed )
Supplement: ijms-26-04672-s001.zip › ijms-3598274-supplementary.xlsx › Supporting_information_Table_S1

TRIM71 Deficiency Causes Germ Cell Loss During Mouse Embryogenesis and Is Associated With Human Male Infertility.

Torres-Fernández LA et al.

Frontiers in Cell and Developmental Biology, 2021

34055789 (PubMed )
Supplement: Data_Sheet_1.pdf

[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].

Macháčková E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2016

[Surgical prevention of breast carcinoma in patients with hereditary risk].

Dražan L et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012

Genotype-phenotype correlations in Fanconi anemia.

Neveling K et al.

Mutation Research, 2009

Delayed diagnosis and complications of Fanconi anaemia at advanced age--a paradigm.

Huck K et al.

British Journal of Haematology, 2006

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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."