Associated Papers
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1
A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.
Jiang L et al.
Journal of Orthopaedic Surgery and Research, 2024
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Praveen K et al.
Communications Biology, 2022
Association between polymorphisms of collagen genes and susceptibility to intervertebral disc degeneration: a meta-analysis.
Xie G et al.
Journal of Orthopaedic Surgery and Research, 2021
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.
Nash BM et al.
European Journal of Human Genetics : Ejhg, 2021
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Association of COL9A3 trp3 polymorphism with intervertebral disk degeneration: a meta-analysis.
Huang D et al.
Bmc Musculoskeletal Disorders, 2018
Genetic polymorphisms associated with intervertebral disc degeneration.
Mayer JE et al.
The Spine Journal : Official Journal of the North American Spine Society, 2013
An Association Study of Interleukin 18 Receptor Genes (IL18R1 and IL18RAP) in Lumbar Disc Degeneration.
Omair A et al.
The Open Orthopaedics Journal, 2012
Type IX collagen neo-deposition in degenerative discs of surgical patients whether genotyped plus or minus for COL9 risk alleles.
Zhu Y et al.
Spine, 2011
Genetic factors are associated with modic changes in endplates of lumbar vertebral bodies.
Karppinen J et al.
Spine, 2008
Phenotypic and population differences in the association between CILP and lumbar disc disease.
Virtanen IM et al.
Journal of Medical Genetics, 2007
The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration.
Jim JJ et al.
Spine, 2005
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