Varaico: Literature-Extracted Genetic Variants

Gene:ITPR1
Variant:p.F2583S
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ITPR1

NM_001378452.1:p.F2583S

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

37964426 (PubMed )
Supplement: MDS-39-141-s002.docx

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D et al.

International Journal of Molecular Sciences, 2021

34445196 (PubMed )
Supplement: ijms-22-08490-s001.zip › Table_S1_revised_06.8.21-.xlsx › Sheet1

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

Gauquelin L et al.

Movement Disorders Clinical Practice, 2020

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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."