Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.
about
M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normalAutoimmune diseases - connecting risk alleles with molecular traits of the immune system.Rethinking mechanisms of autoimmune pathogenesisThe role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's diseaseGuidelines for investigating causality of sequence variants in human diseaseGenome-wide association study of ancestry-specific TB risk in the South African Coloured populationDetection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes.Sialic acids and autoimmune disease.Rare variants, autoimmune disease, and arthritisTechniques and Approaches to Genetic Analyses in Nephrological Disorders.Assessing the validity and reproducibility of genome-scale predictionsNext-generation sequencing in understanding complex neurological diseaseA novel clinician interface to improve clinician access to up-to-date genetic results.A systematic approach to assessing the clinical significance of genetic variants.Gene-function studies in systemic lupus erythematosus.Rare variants and autoimmune disease.NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk.Associating rare genetic variants with human diseases.Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme.EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.Rare variants of the 3’-5’ DNA exonuclease TREX1 in early onset small vessel stroke.Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke.SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies.
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P2860
Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.
description
2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
name
Rare and functional SIAE varia ...... ividuals of European ancestry.
@ast
Rare and functional SIAE varia ...... ividuals of European ancestry.
@en
type
label
Rare and functional SIAE varia ...... ividuals of European ancestry.
@ast
Rare and functional SIAE varia ...... ividuals of European ancestry.
@en
prefLabel
Rare and functional SIAE varia ...... ividuals of European ancestry.
@ast
Rare and functional SIAE varia ...... ividuals of European ancestry.
@en
P2093
P2860
P50
P356
P1433
P1476
Rare and functional SIAE varia ...... ividuals of European ancestry.
@en
P2093
Andre Franke
Cisca Wijmenga
Cleo C van Diemen
Corina Shtir
David N Glass
Elisabeth Brouwer
Giulio Rosati
Jack Satsangi
Jason D Cooper
Jennifer Sambrook
P2860
P2888
P356
10.1038/NG.1037
P407
P50
P577
2011-12-27T00:00:00Z