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
Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification.
Staklinski SJ et al.
Biorxiv : the Preprint Server for Biology, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM16_ESM.xlsx › ES_RNA
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Akesson LS et al.
Human Mutation, 2020
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