Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.L417P
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SQSTM1

NM_003900.5:p.L417P

Associated Papers

Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis.

Gu JM et al.

Journal of Bone and Mineral Metabolism, 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

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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."