Associated Papers
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table2.xlsx › Supplementary_table_2._
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.
Sharma Y et al.
Neuropediatrics, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Scala M et al.
Human Mutation, 2022
Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function.
Schroader JH et al.
Wiley Interdisciplinary Reviews. Rna, 0
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