Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.A44P
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MYH9

NM_002473.6:p.A44P

Associated Papers

The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.

Goto S et al.

Genes, 2026

A novel variant of MYH9 mutation associated macro-thrombocytopenia: A case series.

Wadhera S et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2025

Identification of a novel MYH9-related disease-associated mutation with multiple faintly staining Döhle-like bodies.

Yin C et al.

Pediatric Blood & Cancer, 2024

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: mmc2.docx

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

Case Report: MYH9-related disease caused by Ala44Pro mutation in a child with a previous diagnosis of chronic immune thrombocytopenia.

Niwa K et al.

Frontiers in Pediatrics, 2024

MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.

Natesirinilkul R et al.

Pediatric Blood & Cancer, 2021

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

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

Saposnik B et al.

Molecular Genetics & Genomic Medicine, 2014

Apparent homozygosity for p.E1841K mutation in a patient with MYH9-related disorder: a misdiagnosis for an autosomal dominant disorder?

Schlegel N et al.

European Journal of Haematology, 2012

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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."