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- 2021
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Mark
Characterization of rare germline variants in familial multiple myeloma
(
- Contribution to journal › Letter
- 2017
-
Mark
GAVIN : Gene-Aware Variant INterpretation for medical sequencing
(
- Contribution to journal › Article
- 2014
-
Mark
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
(
- Contribution to journal › Article
- 2009
-
Mark
Sharing data between LSDBs and central repositories.
(
- Contribution to journal › Article
-
Mark
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
(
- Contribution to journal › Article
-
Mark
Planning the human variome project: the Spain report.
(
- Contribution to journal › Article
- 2007
-
Mark
Discussion on the use of taxanes for treatment of breast cancers in BRCA1 mutations carriers
(
- Contribution to journal › Debate/Note/Editorial