Associated Papers
Case Report: a novel homozygous ASNS variant in a Chinese female with severe microcephaly, encephalopathy and epilepsy.
Cheng S et al.
Frontiers in Neuroscience, 2025
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
[Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency].
Song PP et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024
Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification.
Staklinski SJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Fetal MRI and ultrasound findings of a confirmed asparagine synthetase deficiency case.
Churchill LE et al.
Prenatal Diagnosis, 2020
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