Varaico: Literature-Extracted Genetic Variants

Gene:ARFGEF2
Variant:p.Q130*
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ARFGEF2

NM_006420.3:p.Q130*

Associated Papers

The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder.

Yilmaz S et al.

Brain & Development, 2016

Periventricular nodular heterotopia and dystonia due to an ARFGEF2 mutation.

Bardón-Cancho EJ et al.

Pediatric Neurology, 2014

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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."