Associated Papers
MFSD7c functions as a transporter of choline at the blood-brain barrier.
Nguyen XTA et al.
Cell Research, 2024
38302740 (PubMed )
Supplement: 41422_2023_923_MOESM15_ESM.xlsx › List_of_missense_mutations
Structural and molecular basis of choline uptake into the brain by FLVCR2.
Cater RJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.
Radio FC et al.
Molecular Genetics & Genomic Medicine, 2018
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.
Lalonde E et al.
Human Mutation, 2010
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