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1.
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
J Med Genet
; 60(6): 568-575, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36600593
2.
Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort.
Genet Med
; 25(11): 100937, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37466057
3.
Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant.
Fam Cancer
; 22(4): 521-526, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37540482
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