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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PQBP1

Variant:p.P244A

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PQBP1

NM_001032382.2:p.P244A

hg38:chrX:48903016 C>G

Associated Papers

The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor.

Liu X et al.

The Journal of Biological Chemistry, 2020

32041777 (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."