Varaico: Literature-Extracted Genetic Variants

Gene:TNF
Variant:p.S171F
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TNF

NM_000594.4:p.S171F

Associated Papers

NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.

Bardet J et al.

Journal of Clinical Medicine, 2021

NLRC4 inflammasomopathies.

Romberg N et al.

Current Opinion in Allergy and Clinical Immunology, 2017

Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites.

Liang J et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."