C

COHEN J. S.

Last name: COHEN J. S.

2020 (v1)

Publication

Metadata-only

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

Scala M. Mojarrad M. Riazuddin S.

No description

Uploaded on: April 14, 2023
2019 (v1)

Publication

Metadata-only

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Ng B. G. Sosicka P. Agadi S.

Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-congenital disorders of glycosylation (CDG; formerly CDG-IIm). To date, 29 unique de novo variants...

Uploaded on: April 14, 2023