Varaico: Literature-Extracted Genetic Variants

Gene:MYH10
Variant:p.R1165L
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MYH10

NM_001256012.3:p.R1165L

Associated Papers

Genotype-phenotype correlation in MYH9-related thrombocytopenia.

Dong F et al.

British Journal of Haematology, 2005

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

Arrondel C et al.

Journal of the American Society of Nephrology : Jasn, 2002

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

Kunishima S et al.

Journal of Human Genetics, 2001

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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."