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
Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant.
Altıntaş M et al.
Clinical Neurology and Neurosurgery, 2023
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