Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.L413F
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NUP62

NM_016553.5:p.L413F

Associated Papers

Molecular modelling and dynamic simulations of sequestosome 1 (SQSTM1) missense mutations linked to Paget disease of bone.

Shaik NA et al.

Journal of Biomolecular Structure & Dynamics, 2021

Epidemiogenetic study of French families with Paget's disease of bone.

Michou L et al.

Joint Bone Spine, 2012

Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

Collet C et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007

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

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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."