Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.G376Splc
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STAT1

NM_007315.4:p.G376Splc

Associated Papers

A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection.

Greybe L et al.

Bmc Pediatrics, 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."