Associated Papers
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Visschedijk MC et al.
Plos One, 2016
27490946 (PubMed )
Supplement: pone.0159609.s002.xlsx › Results_Discovery_phase_I
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
Rule-based models of the interplay between genetic and environmental factors in childhood allergy.
Bornelöv S et al.
Plos One, 2013
24260339 (PubMed )
Supplement: pone.0080080.s003.xls › Sheet1
Characterization and functional investigation of single nucleotide polymorphisms (SNPs) in the human TLR5 gene.
Merx S et al.
Human Mutation, 2006
A common dominant TLR5 stop codon polymorphism abolishes flagellin signaling and is associated with susceptibility to legionnaires' disease.
Hawn TR et al.
The Journal of Experimental Medicine, 2003
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