Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF28
Variant:p.K280M
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ARHGEF28

NM_001177693.2:p.K280M

Associated Papers

Genetic and epigenetic study of ALS-discordant identical twins with double mutations in SOD1 and ARHGEF28.

Zhang M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis.

Droppelmann CA et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013

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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."