Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.P2L
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BRCA2

NM_000059.4:p.P2L

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3w

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA2_ethnic_sources_

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.

Fraile-Bethencourt E et al.

Frontiers in Genetics, 2019

Identification of genetic variants for clinical management of familial colorectal tumors.

Dominguez-Valentin M et al.

Bmc Medical Genetics, 2018

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2018

Characterization of HSD17B1 sequence variants in breast cancer cases from French Canadian families with high risk of breast and ovarian cancer.

Plourde M et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2008

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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."