Varaico: Literature-Extracted Genetic Variants

Gene:ADGRG1
Variant:p.S485P
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ADGRG1

NM_201525.4:p.S485P

Associated Papers

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

Disease-associated extracellular loop mutations in the adhesion G protein-coupled receptor G1 (ADGRG1; GPR56) differentially regulate downstream signaling.

Kishore A et al.

The Journal of Biological Chemistry, 2017

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.

Quattrocchi CC et al.

Neurogenetics, 2013

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."