Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.A224Splc
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BRCA1

NM_007294.4:p.A224Splc

Associated Papers

Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.

Wappenschmidt B et al.

Plos One, 2012

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A et al.

Human Mutation, 2010

Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers.

Miolo G et al.

Bmc Cancer, 2009

BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

Seo JH et al.

Human Mutation, 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."