Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.S315Splc
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STAT1

NM_007315.4:p.S315Splc

Associated Papers

Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review.

Roa-Bautista A et al.

Frontiers in Immunology, 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."