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1.
Glanzmann thrombasthenia: genetic basis and clinical correlates.
Haematologica
; 105(4): 888-894, 2020 04.
Article
in English
| MEDLINE | ID: mdl-32139434
2.
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.
J Thromb Haemost
; 22(3): 645-665, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38016518
3.
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
Blood Adv
; 5(2): 414-431, 2021 01 26.
Article
in English
| MEDLINE | ID: mdl-33496739
4.
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Blood Adv
; 3(20): 2962-2979, 2019 10 22.
Article
in English
| MEDLINE | ID: mdl-31648317
5.
Inheritance of the CENP-A chromatin domain is spatially and temporally constrained at human centromeres.
Epigenetics Chromatin
; 9: 20, 2016.
Article
in English
| MEDLINE | ID: mdl-27252782
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