Varaico: Literature-Extracted Genetic Variants

Gene:MYO9A
Variant:p.R2283H
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MYO9A

NM_006901.4:p.R2283H

Associated Papers

Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis.

Li Q et al.

Kidney International, 2021

Congenital Myasthenic Syndromes in 2018.

Engel AG

Current Neurology and Neuroscience Reports, 2018

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

O'Connor E et al.

Brain : a Journal of Neurology, 2016

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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."