Associated Papers
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Rosano KK et al.
American Journal of Medical Genetics. Part A, 2021
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
Giuffrida MG et al.
American Journal of Medical Genetics. Part A, 2020
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