Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.C174R
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PTPN11

NM_002834.5:p.C174R

Associated Papers

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Okada S et al.

Journal of Clinical Immunology, 2020

Decoding disease-causing mechanisms of missense mutations from supramolecular structures.

Hijikata A et al.

Scientific Reports, 2017

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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."