Varaico: Literature-Extracted Genetic Variants

Gene:ADGRG6
Variant:p.W1088C
Back to variants list

ADGRG6

NM_198569.3:p.W1088C

Associated Papers

ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.

Perrain V et al.

Neuromuscular Disorders : Nmd, 2025

A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9.

Shravya MS et al.

Clinical Genetics, 2023

The adhesion GPCR Adgrg6 (Gpr126): Insights from the zebrafish model.

Baxendale S et al.

Genesis (new York, N.y. : 2000), 2021

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Hosseini M et al.

American Journal of Medical Genetics. Part A, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."