Citations for
1LEMD2, PGLS
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Marbach F, Rustad CF, Riess A, Đukić D, Hsieh TC, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz PM, Lessel D, Netzer C.
Am J Hum Genet 104(4):749-757. doi: 10.1016/j.ajhg.2019.02.021. Epub 2019 Mar 21. 2019
2PGLS
Identification of the cDNA encoding human 6-phosphogluconolactonase, the enzyme catalyzing the second step of the pentose phosphate pathway(1).
Collard F, Collet J, Gerin I, Veiga-da-Cunha M, Van Schaftingen E.
FEBS Lett 459(2):223-6 1999