Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.C324W
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STAT1

NM_007315.4:p.C324W

Associated Papers

Novel STAT1 mutation in a paediatric case of chronic mucocutaneous candidiasis complicated by primary hypothyroidism: clinical presentation, genetic analysis and prognostic implications.

Hou F et al.

Bmj Case Reports, 2023

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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."