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
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