Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.N76_K82del0
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MYH9

NM_002473.6:p.N76_K82del0

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

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

Identification of the first in cis mutations in MYH9 disorder.

Miyajima Y et al.

European Journal of Haematology, 2009

Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.

Kunishima S et al.

European Journal of Haematology, 2005

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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."