Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.R273_V277delFs
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STIM1

NM_001382567.1:p.R273_V277delFs

Associated Papers

A novel variant in the STIM1 gene leading to combined immunodeficiency and congenital myopathy.

Taherkhani A et al.

Immunologic Research, 2025

A novel frame shift mutation in STIM1 gene causing primary immunodeficiency.

Derakhshan D et al.

Intractable & Rare Diseases Research, 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."