Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.P293L
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SQSTM1

NM_003900.5:p.P293L

Associated Papers

Attenuated clinical and osteoclastic phenotypes of Paget's disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene.

Dessay M et al.

Bmc Medical Genomics, 2022

ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia.

Wang Y et al.

Frontiers in Neurology, 2022

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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."