Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.C1913*
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BRCA2

NM_000059.4:p.C1913*

Associated Papers

Functional annotation of variants of the BRCA2 gene via locally haploid human pluripotent stem cells.

Li H et al.

Nature Biomedical Engineering, 2024

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s010.xlsx › Asian_MNS_both

Variomes: a high recall search engine to support the curation of genomic variants.

Pasche E et al.

Bioinformatics (oxford, England), 2022

35274687 (PubMed )
Supplement: btac146_supplementary_data.pdf

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

BRCA1 and BRCA2 mutation testing in Cyprus; a population based study.

Loizidou MA et al.

Clinical Genetics, 2017

Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.

Hadjisavvas A et al.

Cancer Genetics and Cytogenetics, 2004

BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer.

Hadjisavvas A et al.

Human Mutation, 2003

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