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
Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency.
Abdel-Salam GMH et al.
Neuropediatrics, 2021
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
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