Associated Papers
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Arnadottir GA et al.
Nature Communications, 2022
Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.
Kwak JE et al.
Biochemical and Biophysical Research Communications, 2015
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