Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.P35A
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MYH9

NM_002473.6:p.P35A

Associated Papers

Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells.

Asensio-Juárez G et al.

Cells, 2020

Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.

Yang EJ et al.

Journal of Pediatric Hematology/oncology, 2020

A case of MYH9 disorders caused by a novel mutation (p.K74E).

Kanematsu T et al.

Annals of Hematology, 2016

Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.

Saposnik B et al.

Molecular Genetics & Genomic Medicine, 2014

A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.

Jang MJ et al.

Yonsei Medical Journal, 2012

Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA.

Kahr WH et al.

Thrombosis and Haemostasis, 2009

Identification of the first in cis mutations in MYH9 disorder.

Miyajima Y et al.

European Journal of Haematology, 2009

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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."