Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.Y383*
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SQSTM1

NM_003900.5:p.Y383*

Associated Papers

C9ORF72 hexanucleotide repeat expansion frequency in patients with Paget's disease of bone.

Rubino E et al.

Neurobiology of Aging, 2020

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

Alonso N et al.

Clinical Reviews in Bone and Mineral Metabolism, 2017

Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function.

Goode A et al.

Biochimica Et Biophysica Acta, 2014

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Rubino E et al.

Neurology, 2012

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

Chung PY et al.

Seminars in Arthritis and Rheumatism, 2012

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

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

Recent advances in understanding the molecular basis of Paget disease of bone.

Goode A et al.

Journal of Clinical Pathology, 2010

Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone.

Falchetti A et al.

Calcified Tissue International, 2009

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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."