Varaico: Literature-Extracted Genetic Variants

Gene:ITPR1
Variant:p.V33L
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ITPR1

NM_001378452.1:p.V33L

Associated Papers

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases.

Silva-Rojas R et al.

Frontiers in Physiology, 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."