Associated Papers
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S et al.
Nature Communications, 2024
38982041 (PubMed )
Supplement: 41467_2024_50007_MOESM4_ESM.xlsx › SD3
Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.
Torre-Fuentes L et al.
Cns Neuroscience & Therapeutics, 2020
32951330 (PubMed )
Supplement: CNS-26-1178-s002.xlsx › Hoja1
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs
Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.
Whyte MP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.
Whyte MP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010
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