Varaico: Literature-Extracted Genetic Variants

Gene:ITPR1
Variant:p.H244R
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ITPR1

NM_001378452.1:p.H244R

Associated Papers

Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia.

Raslan IR et al.

Neurology. Genetics, 2024

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
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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."