Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.Q1207del1
Back to variants list

MYH9

NM_002473.6:p.Q1207del1

Associated Papers

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

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.

Balduini CL et al.

British Journal of Haematology, 2011

Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24.

Miyazaki K et al.

European Journal of Haematology, 2009

MYH9-related platelet disorders.

Althaus K et al.

Seminars in Thrombosis and Hemostasis, 2009

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

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."