Associated Papers
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
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
A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease.
Gianfrancesco F et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
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