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- 2022
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Mark
Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield : Results from a nationwide prospective cohort
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- Contribution to journal › Article
- 2019
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Mark
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants : An ENIGMA report
(
- Contribution to journal › Article
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Mark
Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification
(
- Contribution to journal › Article
- 2017
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Mark
GAVIN : Gene-Aware Variant INterpretation for medical sequencing
(
- Contribution to journal › Article