Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T276I
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BRCA1

NM_007294.4:p.T276I

Associated Papers

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.

Benet-Pagès A et al.

Genetics in Medicine Open, 2025

40027238 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

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

Twenty-three novel BRCA1 and BRCA2 sequence variations identified in a cohort of Swiss breast and ovarian cancer families.

Maillet P et al.

Cancer Genetics and Cytogenetics, 2006

RNASEL mutation screening and association study in Ashkenazi and non-Ashkenazi prostate cancer patients.

Orr-Urtreger A et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006

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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."