Associated Papers
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Marconi C et al.
Clinical Genetics, 2021
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Pehlivan D et al.
American Journal of Human Genetics, 2019
Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.
Reinstein E et al.
Clinical Genetics, 2018
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