Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K1759_I1760Splc
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BRCA1

NM_007294.4:p.K1759_I1760Splc

Associated Papers

Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.

Llinares-Burguet I et al.

The Journal of Pathology, 2026

41230741 (PubMed )
Supplement: PATH-268-150-s001.zip › path6497-sup-0003-TableS6.xlsx › Table_S6.4

5'UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin.

Sokolenko AP et al.

Familial Cancer, 2025

Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.

Wappenschmidt B et al.

Plos One, 2012

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