Varaico: Literature-Extracted Genetic Variants

Gene:FANCG
Variant:p.Q170_S171Splc
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FANCG

NM_004629.2:p.Q170_S171Splc

Associated Papers

Erratum to: Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.

Steinberg-Shemer O et al.

Haematologica, 2025

Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair.

Peake JD et al.

Human Genetics, 2022

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.

Thompson AS et al.

Molecular Genetics & Genomic Medicine, 2021

33960719 (PubMed )
Supplement: MGG3-9-e1693-s005.docx

Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.

Steinberg-Shemer O et al.

Haematologica, 2020

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Madsen PP et al.

Human Genetics, 2006

Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.

Tamary H et al.

European Journal of Haematology, 2004

The molecular biology of Fanconi anemia.

Tamary H et al.

The Israel Medical Association Journal : Imaj, 2002

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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."