Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.Q706E
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MYH9

NM_002473.6:p.Q706E

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

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

Successful Eltrombopag Therapy in a Child with MYH9-Related Inherited Thrombocytopenia.

Lassandro G et al.

Children (basel, Switzerland), 2022

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

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

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

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

Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).

Selleng K et al.

European Journal of Haematology, 2007

Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations.

Kunishima S et al.

European Journal of Haematology, 2007

Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly.

Otsubo K et al.

Pediatric Blood & Cancer, 2006

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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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."