Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.P332S
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STAT1

NM_007315.4:p.P332S

Associated Papers

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

Soltész B et al.

Journal of Medical Genetics, 2013

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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."