Varaico: Literature-Extracted Genetic Variants

Gene:ITPR1
Variant:p.R2552Q
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ITPR1

NM_001378452.1:p.R2552Q

Associated Papers

Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.

Ciaccio C et al.

Cerebellum (london, England), 2024

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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."