Varaico: Literature-Extracted Genetic Variants

Gene:IFIH1
Variant:p.I506V
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IFIH1

NM_022168.4:p.I506V

Associated Papers

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

Luo H et al.

European Journal of Human Genetics : Ejhg, 2021

33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4

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

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP et al.

Scientific Reports, 2014

25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
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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."