Associated Papers
Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness.
Lauerova B et al.
Neuromuscular Disorders : Nmd, 2025
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
Morimoto M et al.
American Journal of Human Genetics, 2024
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