Associated Papers
A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.
Jahanpanah M et al.
Molecular Genetics & Genomic Medicine, 2024
Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification.
Staklinski SJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Alharby E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation: A case report.
Chen C et al.
Medicine, 2020
[One case of early-onset epileptic encephalopathy caused by KCNQ2 gene nonsense mutation].
Hu C et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Select a paper to view details