Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L147_Q148Splc
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BRCA1

NM_007294.4:p.L147_Q148Splc

Associated Papers

The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms.

Canson DM et al.

Genome Research, 2025

40769711 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › S1.splicing_results_summary

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Palmero EI et al.

Scientific Reports, 2018

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Arai M et al.

Journal of Human Genetics, 2018

BRCA Share: A Collection of Clinical BRCA Gene Variants.

Béroud C et al.

Human Mutation, 2016

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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."