Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1581*
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BRCA1

NM_007294.4:p.E1581*

Associated Papers

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1

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

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

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

Meindl A

International Journal of Cancer, 2002

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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."