Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.F41L
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MYH9

NM_002473.6:p.F41L

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

Diagnostic delay of MYH9-related disorder in Japan.

Sakamoto A et al.

British Journal of Haematology, 2024

Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.

Casas-Mao D et al.

The Journal of Biological Chemistry, 2024

38042490 (PubMed )
Supplement: mmc1.docx

MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane.

Smith AS et al.

American Journal of Hematology, 2019

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

Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: a nationwide survey in Japan.

Yoshimi A et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2016

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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."