Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.D408_E409insFs
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SQSTM1

NM_003900.5:p.D408_E409insFs

Associated Papers

Genetic aspects of the Paget's disease of bone: concerns on the introduction of DNA-based tests in the clinical practice. Advantages and disadvantages of its application.

Falchetti A et al.

European Journal of Clinical Investigation, 2010

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

Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees.

Good DA et al.

Bone, 2004

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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."