Associated Papers
MFSD7c functions as a transporter of choline at the blood-brain barrier.
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38302740 (PubMed )
Supplement: 41422_2023_923_MOESM15_ESM.xlsx › List_of_missense_mutations
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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