Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S1099insFs
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BRCA2

NM_000059.4:p.S1099insFs

Associated Papers

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

Heidemann S et al.

Breast Cancer Research and Treatment, 2012

Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations.

Leegte B et al.

Journal of Medical Genetics, 2005

Cancer variation associated with the position of the mutation in the BRCA2 gene.

Lubinski J et al.

Familial Cancer, 2004

Evidence of a founder BRCA1 mutation in Scotland.

Liede A et al.

British Journal of Cancer, 2000

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Jaeken J et al.

American Journal of Human Genetics, 1998

A breast cancer patient of Scottish descent with germ-line mutations in BRCA1 and BRCA2.

Liede A et al.

American Journal of Human Genetics, 1998

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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."