Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF40
Variant:p.R225W
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ARHGEF40

NM_018071.5:p.R225W

Associated Papers

Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.

Napier MP et al.

Hgg Advances, 2025

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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."