Associated Papers
Risk of sudden cardiac death in EXOSC5-related disease.
Calame DG et al.
American Journal of Medical Genetics. Part A, 2021
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Slavotinek A et al.
Human Molecular Genetics, 2020
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