Associated Papers
From Polymorphisms to Phenotypes: SMAD3 rs17293632 and LTBP3 rs11545200 in Pediatric Inflammatory Bowel Disease.
Brylak J et al.
Genes, 2025
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
Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).
Rieneck K et al.
Plos One, 2023
37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1
Identification of Missense Extracellular Matrix Gene Variants in a Large Glaucoma Pedigree and Investigation of the N700S Thrombospondin-1 Variant in Normal and Glaucomatous Trabecular Meshwork Cells.
Wirtz MK et al.
Current Eye Research, 2022
A case report of multiple primary prostate tumors with differential drug sensitivity.
Wilkinson S et al.
Nature Communications, 2020
32054861 (PubMed )
Supplement: 41467_2020_14657_MOESM4_ESM.xlsx › Source_of_Supp_Table_3
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.
Luo X et al.
Frontiers in Genetics, 2020
32528524 (PubMed )
Supplement: Data_Sheet_1.XLSX › variants_in_candidate_genes
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.
Buckingham L et al.
Hereditary Cancer in Clinical Practice, 2019
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
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