VARIANT: 84061v1
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Entry
84061v1 Variant
Name
MAGT1 deficiency
Type
Loss of function
Gene
MAGT1
magnesium transporter 1 [KO:
K19478
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
300715
Network
nt06015
N-Glycan biosynthesis
Disease
H00118
Congenital disorders of glycosylation type I
Reference
PMID:
31036665
Authors
Blommaert E, Peanne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, Race V, Keldermans L, Souche E, Corveleyn A, Sparkes R, Bhattacharya K, Devalck C, Schrijvers R, Foulquier F, Gilmore R, Matthijs G
Title
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Journal
Proc Natl Acad Sci U S A 116:9865-9870 (2019)
DOI:
10.1073/pnas.1817815116
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