PMID: 23762088

RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease.

Clinical & developmental immunology
N Lo Iacono, A Pangrazio, M Abinun, R Bredius, M Zecca, HC Blair, P Vezzoni, A Villa, C Sobacchi
2013

5 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
13-43180932-G-C TNFSF11 c.832G>C p.Gly278Arg Missense 5/5 -
13-43180928-ACG-A TNFSF11 c.828_829delCG p.Val277Trpfs*5 Frameshift 5/5 -
13-43180696-T-A TNFSF11 c.596T>A p.Met199Lys Missense 5/5 -
13-43180767-C-T TNFSF11 c.667C>T p.Arg223* Nonsense 5/5 -
13-43175121-AAGCTC-A TNFSF11 c.532+4_532+8delAGCTC - IntronicDeletion - 4/4