Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.E1421K
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MYH9

NM_002473.6:p.E1421K

Associated Papers

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

Goto S et al.

Genes, 2026

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

MYH9-macrothrombocytopenia caused by a novel variant (E1421K) initially presenting as apparent neonatal alloimmune thrombocytopenia.

Samelson-Jones BJ et al.

Pediatric Blood & Cancer, 2018

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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."