Associated Papers
An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.
Ordaz T et al.
American Journal of Medical Genetics. Part A, 2026
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
37964426 (PubMed )
Supplement: MDS-39-141-s002.docx
Retrocollis as the cardinal feature in a de novo ITRP1 variant.
Zachou A et al.
Brain & Development, 2022
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