Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.E87insFs
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STIM1

NM_001382567.1:p.E87insFs

Associated Papers

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.

Morin G et al.

Human Mutation, 2020

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

[Immunodeficiencies and pathologies associated with mutations in STIM/ORAI, a membrane complex in the heart of calcium signalling].

Le Deist F et al.

Medecine Sciences : M/s, 0

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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."