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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBQLN2

Variant:p.P40R

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UBQLN2

NM_013444.4:p.P40R

hg38:chrX:56563992 C>G

Associated Papers

The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts.

Maranda V et al.

International Journal of Molecular Sciences, 2022

35216266 (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."