Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E827delFs
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BRCA1

NM_007294.4:p.E827delFs

Associated Papers

Uterine Cavity Lavage Mutation Analysis in Lithuanian Ovarian Cancer Patients.

Žilovič D et al.

Cancers, 2023

36765826 (PubMed )
Supplement: cancers-15-00868-s001.zip › cancers-2125909-supplementary.pdf

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Hakkaart C et al.

Communications Biology, 2022

36203093 (PubMed )
Supplement: 42003_2022_3978_MOESM4_ESM.xlsx › Supplementary_Data_13

A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review.

Loza P et al.

Hereditary Cancer in Clinical Practice, 2021

Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania.

Janavičius R et al.

Cancer Genetics, 2014

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

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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."