Associated Papers
Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome.
Shravya MS et al.
American Journal of Medical Genetics. Part A, 2025
Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.
Abiusi E et al.
Human Molecular Genetics, 2017
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