Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.V1602delFs
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BRCA1

NM_007294.4:p.V1602delFs

Associated Papers

The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.

Shaw CA et al.

American Journal of Human Genetics, 2025

40829599 (PubMed )
Supplement: mmc2.xlsx › Annotations

[First results of comprehensive genomic studies on solid tumours in National Institute of Oncology].

Tóth E et al.

Magyar Onkologia, 2025

Application of comprehensive molecular genetic profiling in precision cancer medicine, Hungarian experiences.

Tóth E et al.

Acta Oncologica (stockholm, Sweden), 2024

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Watson CM et al.

Human Mutation, 2014

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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."