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Popular pages
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ENIGMA Classification Criteria | Enigma Consortium
herefor reference purposes ENIGMA members lead and/or contribute to additional VCEPs, including the Hereditary Breast Ovarian Pancreatic (ATM, BARD1, BRIP1, CHEK2, RAD51C, RAD51D, and PALB2) and TP5...
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ENIGMA consortium | Enigma Consortium
ENIGMA is an international consortium of investigators focused on determining the clinical significance of sequence variants in BRCA1, BRCA2 and other known or suspected breast cancer genes, to provid...
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Library | Enigma Consortium
Library | Enigma Consortium ...
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ENIGMA publications | Enigma Consortium
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach. Thomassen, M., Mesman, R. L. S., Hansen, T. V. O., Menendez, M., Rossing...
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ENIGMA meeting 2024 | Enigma Consortium
Vocabulary Translation Project (VTP) – Arcangela De Nicolo (slides – presentation) Clinical and molecular studies of BRCA1, BRCA2, PALB2 variants identified in Fanconi Anemia patients – Amanda Spurdle...
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Recent publication | Enigma Consortium
Recent publication New ENIGMA publication describes the existence of 5’ non-coding variants in BRCA1 and BRCA2 that alter promoter activity and protein binding (Burke et al., 2018). Website by NOFUSS ...