Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.I171T
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BRCA1

NM_007294.4:p.I171T

Associated Papers

Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance.

So MK et al.

Diagnostics (basel, Switzerland), 2024

39767183 (PubMed )
Supplement: diagnostics-14-02821-s001.zip › diagnostics-3307629-supplementary_Table.xlsx › Supplementary_Table_S1

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s006.xlsx › Sheet1

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Herzog JS et al.

Npj Breast Cancer, 2021

34413315 (PubMed )
Supplement: 41523_2021_317_MOESM1_ESM.xlsx › Table_S3_VUS__n_287_

Epigenetic repression of phosphatidylethanolamine N-methyltransferase (PEMT) in BRCA1-mutated breast cancer.

Li D et al.

Oncotarget, 2014

24675476 (PubMed )
Supplement: oncotarget-05-1315-s002.pdf
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