Varaico: Literature-Extracted Genetic Variants

Gene:FANCG
Variant:p.E308_A309Splc
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FANCG

NM_004629.2:p.E308_A309Splc

Associated Papers

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

Biswas K et al.

Blood, 2011

Genotype-phenotype correlations in Fanconi anemia.

Neveling K et al.

Mutation Research, 2009

A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.

Meyer S et al.

Genes, Chromosomes & Cancer, 2005

Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

Wagner JE et al.

Blood, 2004

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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."