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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBQLN2

Variant:p.P142R

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UBQLN2

NM_013444.4:p.P142R

hg38:chrX:56564298 C>G

Associated Papers

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

Mariani LL et al.

Jama Neurology, 2016

27400454 (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."