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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITPR1

Variant:p.A2539T

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ITPR1

NM_002222.7:p.A2539T

hg38:chr3:4815155 G>A

Associated Papers

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.

Hsiao CT et al.

Plos One, 2017

29186133 (PubMed )

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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."