Associated Papers
A bioinformatics approach to the identification of novel deleterious mutations of human TPMT through validated screening and molecular dynamics.
Saxena S et al.
Scientific Reports, 2022
36344599 (PubMed )
Supplement: 41598_2022_23488_MOESM1_ESM.docx
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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