Associated Papers
The evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma.
Zhou Y et al.
Human Molecular Genetics, 2025
39776193 (PubMed )
Supplement: hmg-2024-oa-00747_supplementary_materials_ddae198.xlsx › Table_S9
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
37292598 (PubMed )
Supplement: media-1.xlsx › Variants
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Association analysis and functional study of COL6A1 single nucleotide polymorphisms in thoracic ossification of the ligamentum flavum in the Chinese Han population.
Qu X et al.
European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society, 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
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Baker NL et al.
Annals of Neurology, 2007
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Lampe AK et al.
Journal of Medical Genetics, 2005
Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis.
Dello Russo C et al.
Journal of Prenatal Medicine, 0
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