Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.M401V
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SQSTM1

NM_003900.5:p.M401V

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

Clinical and Genetic Advances in Paget's Disease of Bone: a Review.

Alonso N et al.

Clinical Reviews in Bone and Mineral Metabolism, 2017

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

Kwok CT et al.

European Journal of Human Genetics : Ejhg, 2014

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

Chung PY et al.

Seminars in Arthritis and Rheumatism, 2012

Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern Italy.

Rendina D et al.

Journal of Endocrinological Investigation, 2010

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

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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."