- Tytuł:
- A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1‐related diseases.
- Autorzy:
- Temat:
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PHENOTYPES
SEVERE combined immunodeficiency
ECTODERMAL dysplasia
IMMUNOLOGIC diseases
FRAMESHIFT mutation
DYSPLASIA - Źródło:
- Clinical Genetics. Jul2021, Vol. 100 Issue 1, p84-89. 6p.
Czasopismo naukowe