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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ORAI2

Variant:p.Y87insFs

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ORAI2

NM_001126340.3:p.Y87insFs

hg38:chr7:102446546 T>TA

Associated Papers

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.

McCarl CA et al.

The Journal of Allergy and Clinical Immunology, 2009

20004786 (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."