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 bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.
Salvi A et al.
Clinical Genetics, 2021
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