Associated Papers
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
Saveri P et al.
Cells, 2020
32326241 (PubMed )
Supplement: cells-09-01028-s001.zip › Table_S3.xlsx › 2449_S14_L001_annot_extract.tab
Identification of a novel genetic locus underlying tremor and dystonia.
Monies D et al.
Human Genomics, 2017
29110692 (PubMed )
Supplement: 40246_2017_123_MOESM2_ESM.pdf
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.
Ho G et al.
Human Mutation, 2011
Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52.
Yonezawa A et al.
Molecular Aspects of Medicine, 0
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