Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.I96I
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SDS

NM_006843.3:p.I96I

Associated Papers

Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China.

Chen X et al.

Journal of Clinical Immunology, 2020

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Liu L et al.

The Journal of Experimental Medicine, 2011

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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."