Varaico: Literature-Extracted Genetic Variants

Gene:IFIH1
Variant:p.L528R
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IFIH1

NM_022168.4:p.L528R

Associated Papers

Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.

Sandling JK et al.

Annals of the Rheumatic Diseases, 2021

33037003 (PubMed )
Supplement: annrheumdis-2020-218636supp002.pdf

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Vidmar L et al.

Scientific Reports, 2019

31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A et al.

Frontiers in Neurology, 2018

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Dand N et al.

Human Molecular Genetics, 2017

28973304 (PubMed )
Supplement: dand_exomewideassociationstudy_hmg_2017_supplementaryexcel_ddx328.xlsx › Supp_Table_10

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

Lamborn IT et al.

The Journal of Experimental Medicine, 2017

28606988 (PubMed )
Supplement: JEM_20161759_TableS3.xlsx › Sheet6

Somatic mutations in clonally expanded cytotoxic T lymphocytes in patients with newly diagnosed rheumatoid arthritis.

Savola P et al.

Nature Communications, 2017

28635960 (PubMed )
Supplement: ncomms15869-s2.xlsx › list_of_variants

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.

Thal DR et al.

International Journal of Molecular Sciences, 2015

26506339 (PubMed )
Supplement: ijms-16-25050-s001.zip › ijms-101073-Tables_S1_and_S2.xls › Table_S2
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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."