Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.E409insFs
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SQSTM1

NM_003900.5:p.E409insFs

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

Familial Paget disease and SQSTM1 mutations in New Zealand.

Cundy T et al.

Calcified Tissue International, 2011

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

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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."