Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.R153S
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PQBP1

NM_001032382.2:p.R153S

Associated Papers

Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.

Chen YW et al.

International Journal of Molecular Sciences, 2021

Frameshift PQBP-1 mutants K192Sfs*7 and R153Sfs*41 implicated in X-linked intellectual disability form stable dimers.

Rahman SK et al.

Journal of Structural Biology, 2019

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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."