Varaico: Literature-Extracted Genetic Variants

Gene:ADGRG1
Variant:p.S485P
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ADGRG1

NM_005682.7:p.S485P

Associated Papers

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

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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."