Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.V1930delFs
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MYH9

NM_002473.6:p.V1930delFs

Associated Papers

MYH9-related inherited thrombocytopenia: the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approaches.

Shen K et al.

Research and Practice in Thrombosis and Haemostasis, 2024

39309229 (PubMed )
Supplement: mmc3.xlsx › HGMD

MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.

Pecci A et al.

Gene, 2018

MYH9 gene mutations associated with bleeding.

Savoia A et al.

Platelets, 2017

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

Pecci A et al.

Human Mutation, 2014

Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

Pecci A et al.

Plos One, 2012

MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.

Pecci A et al.

European Journal of Haematology, 2010

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

Savoia A et al.

Thrombosis and Haemostasis, 2010

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