Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.D405D
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NUP62

NM_016553.5:p.D405D

Associated Papers

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

Chung PY et al.

Seminars in Arthritis and Rheumatism, 2012

Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population.

Michou L et al.

Bone, 2011

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

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

Beyens G et al.

Calcified Tissue International, 2004

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.

Laurin N et al.

American Journal of Human Genetics, 2002

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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."