Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.H1244delFs
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BRCA1

NM_007294.4:p.H1244delFs

Associated Papers

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 2005

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

Meindl A

International Journal of Cancer, 2002

Identification of specific BRCA1 and BRCA2 variants by DHPLC.

Gross E et al.

Human Mutation, 2000

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.

Wagner T et al.

Genomics, 1999

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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."