Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.R1933fs
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MYH9

NM_002473.6:p.R1933fs

Associated Papers

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

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

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