Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.Q13*
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FANCA

NM_000135.4:p.Q13*

Associated Papers

Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.

Ross JS et al.

Cancer, 2016

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

Nicchia E et al.

Molecular Genetics & Genomic Medicine, 2015

26740942 (PubMed )
Supplement: MGG3-3-500-s001.docx

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

De Rocco D et al.

Haematologica, 2014

Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry.

Wajnrajch MP et al.

Pediatrics, 2001

The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.

Futaki M et al.

Blood, 2000

Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.

Gillio AP et al.

Blood, 1997

Fanconi anemia: genetic testing in Ashkenazi Jews.

Auerbach AD

Genetic Testing, 1997

Novel mutations and polymorphisms in the Fanconi anemia group C gene.

Gibson RA et al.

Human Mutation, 1996

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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."