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- 2022
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Mark
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
(
- Contribution to journal › Article
- 2019
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Mark
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
(
- Contribution to journal › Article
- 2018
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Mark
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
(
- Contribution to journal › Article
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Mark
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
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- Contribution to journal › Article
- 2017
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Mark
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3
(
- Contribution to journal › Article