Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.Q400*
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SQSTM1

NM_003900.5:p.Q400*

Associated Papers

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

Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone.

Visconti MR et al.

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

Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.

Chung PY et al.

Calcified Tissue International, 2008

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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."