Autor: Weihong Zhang
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A missense variant in Exon 9 of the ASNS gene causes splicing abnormality in an Infant with asparagine synthetase deficiency
Asparagine Synthetase Deficiency (ASNSD) is a rare neurodevelopmental disorder primarily caused by pathogenic homozygous or compound heterozygous variants in the ASNS gene. Clinical manifestations typically include microcephaly, severe psychomotor deve…