Varaico: Literature-Extracted Genetic Variants

Gene:TPM4
Variant:p.R182C
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TPM4

NM_001145160.2:p.R182C

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."