Varaico: Literature-Extracted Genetic Variants

Gene:IFNA1
Variant:p.M1V
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IFNA1

NM_024013.3:p.M1V

Associated Papers

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.

Liu L et al.

Frontiers in Pediatrics, 2022

Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.

Fierabracci A et al.

Journal of Endocrinological Investigation, 2021

Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.

Gao LW et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Pöyhönen L et al.

Journal of Clinical Immunology, 2019

Genomic Profiling of Patient-Derived Xenografts for Lung Cancer Identifies B2M Inactivation Impairing Immunorecognition.

Pereira C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

28302866 (PubMed )
Supplement: 10780432ccr161946t-sup-169990_2_supp_3753023_rh1cjx.pdf

Single nucleotide polymorphisms of Toll-like receptors and susceptibility to infectious diseases.

Skevaki C et al.

Clinical and Experimental Immunology, 2015

Single nucleotide polymorphisms of HER2 related to osteosarcoma susceptibility.

Xin DJ et al.

International Journal of Clinical and Experimental Pathology, 2015

The genetics of innate immunity sensors and human disease.

Pothlichet J et al.

International Reviews of Immunology, 2013

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

Picard C et al.

Medicine, 2010

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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."