Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11A
Variant:p.S399P
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TNFRSF11A

NM_003839.4:p.S399P

Associated Papers

Paget's disease of bone: evidence for complex pathogenetic interactions.

Chung PY et al.

Seminars in Arthritis and Rheumatism, 2012

Impact of p62/SQSTM1 UBA domain mutations linked to Paget's disease of bone on ubiquitin recognition.

Garner TP et al.

Biochemistry, 2011

Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.

Morissette J et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006

Genetics of Paget's disease of bone.

Michou L et al.

Joint Bone Spine, 2006

Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone.

Layfield R et al.

Biochemical Society Transactions, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."