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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARHGEF6

Variant:p.R121C

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ARHGEF6

NM_004840.3:p.R121C

hg38:chrX:136745321 G>A

Associated Papers

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.

Horn S et al.

Brain : a Journal of Neurology, 2019

31504246 (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."