Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.R1400W
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MYH9

NM_002473.6:p.R1400W

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

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H et al.

American Journal of Human Genetics, 2018

30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

MYH9-related disease: description of a large Chinese pedigree and a survey of reported mutations.

Zhang S et al.

Acta Haematologica, 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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII

MYH9-related platelet disorders.

Althaus K et al.

Seminars in Thrombosis and Hemostasis, 2009

Description of a novel mutation leading to MYH9-related disease.

Burt RA et al.

Thrombosis Research, 2008

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.

Seri M et al.

Medicine, 2003

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

Arrondel C et al.

Journal of the American Society of Nephrology : Jasn, 2002

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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."