Varaico: Literature-Extracted Genetic Variants

Gene:ITPR1
Variant:p.G2539W
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ITPR1

NM_001168272.2:p.G2539W

Associated Papers

Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome.

Terry LE et al.

Neurology. Genetics, 2026

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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."