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Paper Details

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Hum Mol Genet
0
2022
Arg180Gly, FYVE, Gly183Arg, Mendelian disorder, PI3P, RABENOSYN, RBSN, RBSN missense variants, Rabenosyn, facial dysmorphisms, intellectual disability, muscle weakness, mutant, ophthalmoplegia, p, patient, phosphatidylinositol 3-phosphate, separation-of-function alleles
Author NameAffiliation
Stanley F NelsonDavid Geffen School of Medicine, University of California los angeles
Stanley F NelsonDavid Geffen School of Medicine, University of California los angeles
Stanley F NelsonDavid Geffen School of Medicine, University of California los angeles
Stanley F NelsonDavid Geffen School of Medicine, University of California los angeles
Guy A RouleauMcGill University
Guy A RouleauMcGill University
Guy A RouleauThe Neuro (Montreal Neurological Institute-Hospital), McGill University
Guy A RouleauMcGill University
Guy A RouleauThe Neuro (Montreal Neurological Institute-Hospital), McGill University
Guy A RouleauMcGill University
Ariana Kariminejad
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