Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.E396*
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UBC

NM_021009.7:p.E396*

Associated Papers

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

Chung PY et al.

Seminars in Arthritis and Rheumatism, 2012

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone.

Gennari L et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010

Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone.

Falchetti A et al.

Calcified Tissue International, 2009

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

Mechanisms of disease: genetics of Paget's disease of bone and related disorders.

Daroszewska A et al.

Nature Clinical Practice. Rheumatology, 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

Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.

Beyens G et al.

Calcified Tissue International, 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."