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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYH9

Variant:p.E1946K

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MYH9

NM_002473.6:p.E1946K

hg38:chr22:36282715 C>T

Associated Papers

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

Congenital macrothrombocytopenia is a heterogeneous disorder in India.

Ali S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

27291889 (PubMed )

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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."