Associated Papers
SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia.
Zhang J et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
Ross JE et al.
Blood Advances, 2021
Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia.
Cid AR et al.
Clinical Case Reports, 2017
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations.
Haghighi A et al.
Clinical Genetics, 2016
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