Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E470*
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BRCA2

NM_000059.4:p.E470*

Associated Papers

PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.

Kluska A et al.

Bmc Medical Genomics, 2017

Common low-penetrance risk variants associated with breast cancer in Polish women.

Ledwoń JK et al.

Bmc Cancer, 2013

High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer.

Gaj P et al.

Familial Cancer, 2012

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.

Urreizti R et al.

Clinical Genetics, 2010

Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland.

Balabas A et al.

Familial Cancer, 2010

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.

Sibani S et al.

Human Mutation, 2003

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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."