Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.A224Splc
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BRCA1

NM_007294.4:p.A224Splc

Associated Papers

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S2

Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing.

Pal T et al.

Npj Precision Oncology, 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-s002.xlsx › BRCA1

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells.

Lattimore VL et al.

International Journal of Molecular Sciences, 2019

Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.

Lattimore VL et al.

Frontiers in Oncology, 2018

29774201 (PubMed )
Supplement: table_1.PDF

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

Whiley PJ et al.

Clinical Chemistry, 2014

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