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
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
Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.
Castellsagué J et al.
Embo Molecular Medicine, 2015
25810463 (PubMed )
Supplement: emmm0007-0608-sd2.xlsx › MPNST-SP-002_SNV
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