Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1581delFs
Back to variants list

BRCA1

NM_007294.4:p.E1581delFs

Associated Papers

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

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

Watson CM et al.

Human Mutation, 2014

Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.

Rani AQ et al.

Journal of Neurogenetics, 2013

Screening of dystrophin gene deletions in Malaysian patients with Duchenne muscular dystrophy.

Marini M et al.

The Medical Journal of Malaysia, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."