Varaico: Literature-Extracted Genetic Variants

Gene:ADGRG1
Variant:p.E496K
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ADGRG1

NM_005682.7:p.E496K

Associated Papers

Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.

Khan S et al.

The Journal of Gene Medicine, 2023

Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant.

Carneiro F et al.

Frontiers in Pediatrics, 2021

GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.

Öncü-Öner T et al.

The Turkish Journal of Pediatrics, 2018

A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria.

Luo R et al.

Pediatric Neurology, 2011

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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."