Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.L1205_Q1207del0
Back to variants list

MYH9

NM_002473.6:p.L1205_Q1207del0

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_plus_ClinVar

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

[Usefulness of immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A for diagnosing in two sisters with May-Hegglin anomaly].

Kimura N et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2008

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

Burt RA et al.

Thrombosis Research, 2008

Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.

Kunishima S et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."