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Showing articles 0 to 6 of 6 Filter Applied: gene (Click to remove) FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018 Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene Brain 129:1674-1684, Horvath, R.,et al, 2006 Hereditary Hemorrhagic Telangiectasia NEJM 333:918-924, Guttmacher,A.E.,et al, 1995 Wilson Disease Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992 Homing in on Wilson's Disease Editorial, Lancet 1:822-8231989., , 1989 Acid Maltase Deficiency Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986 Showing articles 0 to 6 of 6