Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.K104N
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STIM1

NM_001382567.1:p.K104N

Associated Papers

CRAC channels and patho-physiology of peripheral organ systems.

Bhardwaj R et al.

Biochemical Society Transactions, 2025

The Ca2+ Sensor STIM in Human Diseases.

Berna-Erro A et al.

Biomolecules, 2023

Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.

de la Fuente-Munoz E et al.

Frontiers in Immunology, 2022

Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.

Ticci C et al.

Muscle & Nerve, 2021

Stormorken syndrome caused by STIM1 mutation: A case report and literature review.

Sun W et al.

Medicine International, 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."