Associated Papers
Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.
Hirata E et al.
The Journal of Biological Chemistry, 2024
Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.
Hirata E et al.
Biorxiv : the Preprint Server for Biology, 2024
38617304 (PubMed )
Supplement: NIHPP2024.04.03.587922V2-supplement-1.pdf
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation.
Abiramalatha T et al.
European Journal of Medical Genetics, 2019
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.
Quelhas D et al.
Jimd Reports, 2019
RFT1-CDG in adult siblings with novel mutations.
Ondruskova N et al.
Molecular Genetics and Metabolism, 2012
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