Varaico: Literature-Extracted Genetic Variants

Gene:ADGRG1
Variant:p.C418W
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ADGRG1

NM_201525.4:p.C418W

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

Two Novel Compound Heterozygous ADGRG1/GPR56 Mutations Associated with Diffuse Cerebral Polymicrogyria.

Jha R et al.

Journal of Pediatric Genetics, 2022

Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly: A case report.

Lin WX et al.

World Journal of Clinical Cases, 2022

GPR56: An adhesion GPCR involved in brain development, neurological disorders and cancer.

Ganesh RA et al.

Brain Research, 2020

Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families.

Sawal HA et al.

Journal of Pediatric Genetics, 2018

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

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

Bahi-Buisson N et al.

Brain : a Journal of Neurology, 2010

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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."