Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF9
Variant:p.W307*
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ARHGEF9

NM_001353921.2:p.W307*

Associated Papers

Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay.

Drehmann P et al.

Eneuro, 2023

Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.

Ghesh L et al.

Human Mutation, 2021

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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."