Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.
van Deuren RC et al.
Genome Medicine, 2021
34034819 (PubMed )
Supplement: 13073_2021_907_MOESM1_ESM.xlsx › Table_S3
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.
Smith D et al.
Plos Genetics, 2017
28273074 (PubMed )
Supplement: pgen.1006659.s025.xlsx › IL1RL1_locus
Structural and Functional Attributes of the Interleukin-36 Receptor.
Yi G et al.
The Journal of Biological Chemistry, 2016
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ et al.
Plos Genetics, 2015
25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06P-01A.domain
Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.
Ho JE et al.
The Journal of Clinical Investigation, 2013
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Christodoulou K et al.
Gut, 2013
22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf
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