Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation.
Fiumara A et al.
European Journal of Medical Genetics, 2023
TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy.
Fang Y et al.
Frontiers in Genetics, 2022
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jansen JC et al.
American Journal of Human Genetics, 2016
Select a paper to view details