Associated Papers
A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling.
Marín-Quílez A et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding.
Stapley RJ et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Almazni I et al.
Human Mutation, 2020
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