Varaico: Literature-Extracted Genetic Variants

Gene:ADGRG1
Variant:p.R79*
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ADGRG1

NM_201525.4:p.R79*

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

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

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.

Parrini E et al.

Epilepsia, 2009

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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."