Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1135_P1136insA
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BRCA1

NM_007294.4:p.Q1135_P1136insA

Associated Papers

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations.

de Juan I et al.

Breast Cancer Research and Treatment, 2009

Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western Sweden.

Einbeigi Z et al.

Familial Cancer, 2007

The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations.

Rudkin TM et al.

Bmc Medical Genetics, 2006

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

Díez O 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."