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Mutations in histidyl‐tRNA synthetase (HARS1), an enzyme that charges transfer RNA with the amino acid histidine in the cytoplasm, have only been associated to date with autosomal recessive Usher syndrome type III and autosomal dominant Charcot–Marie–Tooth disease type 2W. Using massive parallel sequencing, we identified bi‐allelic HARS1 variants in a child (c.616G>T, p.Asp206Tyr and c.730delG,...
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