Associated Papers
Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene.
Fernandes AA et al.
American Journal of Medical Genetics. Part A, 2023
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Abdel-Salam GMH et al.
American Journal of Medical Genetics. Part A, 2022
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