Varaico: Literature-Extracted Genetic Variants

Gene:ITPR1
Variant:p.T267A
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ITPR1

NM_001378452.1:p.T267A

Associated Papers

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

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Structure of the inositol 1,4,5-trisphosphate receptor binding core in complex with its ligand.

Bosanac I et al.

Nature, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."