Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.M1_D2insFs
Back to variants list

BRCA1

NM_007294.4:p.M1_D2insFs

Associated Papers

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

de la Hoya M et al.

Human Molecular Genetics, 2016

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."