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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBQLN2

Variant:p.P506L

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UBQLN2

NM_013444.4:p.P506L

hg38:chrX:56565390 C>T

Associated Papers

Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.

Thumbadoo KM et al.

Brain : a Journal of Neurology, 2024

38703371 (PubMed )

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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."