Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.R1933fs
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MYH9

NM_002473.6:p.R1933fs

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 › ClinVar

Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy.

Ren P et al.

Frontiers in Genetics, 2021

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

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.

Balduini CL et al.

British Journal of Haematology, 2011

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.

Verver EJ et al.

Ear and Hearing, 0

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