Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.A1823Splc
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BRCA1

NM_007294.4:p.A1823Splc

Associated Papers

The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms.

Canson DM et al.

Genome Research, 2025

40769711 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › S1.splicing_results_summary

Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.

de Amorim IFG et al.

Plos One, 2025

40146757 (PubMed )
Supplement: pone.0315487.s005.xlsx › All_variants

Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer.

Carvalho CM et al.

Revista Brasileira De Ginecologia E Obstetricia : Revista Da Federacao Brasileira Das Sociedades De Ginecologia E Obstetricia, 2023

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