Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.A1248V
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BRCA1

NM_007294.4:p.A1248V

Associated Papers

Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.

Zografos E et al.

Genes, 2022

Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Yin L et al.

Jama Network Open, 2022

35171259 (PubMed )
Supplement: jamanetwopen-e2148721-s001.pdf

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

Kharel S et al.

The Journal of International Medical Research, 2022

35000471 (PubMed )
Supplement: sj-pdf-3-imr-10.1177_03000605211070757.pdf

The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Andrikopoulou A et al.

Frontiers in Oncology, 2021

BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.

Juwle A et al.

Medical Oncology (northwood, London, England), 2012

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM et al.

Human Mutation, 2012

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation
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