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Amino Acyl-tRNA Synthetases
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A?>?G (p.Asn536Asp) variant propionic acidemia.