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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AMFR

Variant:p.G135_V136insGC

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AMFR

NM_001144.6:p.G135_V136insGC

hg38:chr16:56409534 C>CNNNNNN

Associated Papers

Impaired STING Activation Due to a Variant in the E3 Ubiquitin Ligase AMFR in a Patient with Severe VZV Infection and Hemophagocytic Lymphohistiocytosis.

Thomsen MM et al.

Journal of Clinical Immunology, 2024

38277122 (PubMed )

Supplement: 10875_2024_1653_MOESM1_ESM.docx

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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."