Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.M1116_R1117Splc
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FANCA

NM_000135.4:p.M1116_R1117Splc

Associated Papers

Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event.

Persico I et al.

Frontiers in Genetics, 2023

Distinct Genomic Profiles Are Associated with Treatment Response and Survival in Ovarian Cancer.

de Witte CJ et al.

Cancers, 2022

35326660 (PubMed )
Supplement: cancers-14-01511-s001.zip › Supplemenatry_Tables_1_to_8.xlsx › TableS8_CHORD_result

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

A novel molecular diagnostics platform for somatic and germline precision oncology.

Cabanillas R et al.

Molecular Genetics & Genomic Medicine, 2017

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M et al.

Genome Biology, 2016

27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM5_ESM.pdf

Investigation of FANCA mutations in Greek patients.

Selenti N et al.

Anticancer Research, 2013

Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.

Litim N et al.

Molecular Oncology, 2013

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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."