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Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease

Kevin Eade, Marin L. Gantner, Joseph Hostyk, Takayuki Nagasaki, Sarah Giles, Regis Fallon, Sarah Harkins‐Perry, M Baldini, Esther W. Lim, Lea Scheppke, Michael I. Dorrell, Carolyn Cai, Evan H. Baugh, Charles J. Wolock, Martina Wallace, Rebecca B. Berlow, David B. Goldstein, Christian M. Metallo, Martin Friedlander, Rando Allikmets

2021Nature Metabolism59 citationsDOIOpen Access PDF

Topics & Concepts

SerineBiologyHaploinsufficiencyRetinalLocus (genetics)GeneBiosynthesisPhenotypeGeneticsEnzymeBiochemistryLysosomal Storage Disorders ResearchRenal Diseases and GlomerulopathiesCellular transport and secretion
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease | Litcius