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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBQLN2

Variant:p.G502D

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UBQLN2

NM_013444.4:p.G502D

hg38:chrX:56565378 G>A

Associated Papers

A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.

Watanabe K et al.

Journal of Human Genetics, 2025

40841583 (PubMed )

Supplement: 10038_2025_1392_MOESM1_ESM.pdf

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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."