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Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K, Gantner ML, Hostyk JA, Nagasaki T, Giles S, Fallon R, Harkins-Perry S, Baldini M, Lim EW, Scheppke L, Dorrell MI, Cai C, Baugh EH, Wolock CJ, Wallace M, Berlow RB, Goldstein DB, Metallo CM, Friedlander M, Allikmets R. Eade K, et al. Among authors: berlow rb. Nat Metab. 2021 Mar;3(3):366-377. doi: 10.1038/s42255-021-00361-3. Epub 2021 Mar 22. Nat Metab. 2021. PMID: 33758422 Free PMC article.
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