Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
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DOI: 10.1002/humu.24435
Abstract: Aminoacyl‐tRNA synthetases (ARSs) are essential enzymes for faithful assignment of amino acids to their cognate tRNA. Variants in ARS genes are frequently associated with clinically heterogeneous phenotypes in humans and follow both autosomal dominant or… read more here.
Keywords: wars1 cause; wars1; neurodevelopmental syndrome; biallelic variants ... See more keywords