Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.P248A
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PQBP1

NM_001032382.2:p.P248A

Associated Papers

[Frameshift mutations in the PQBP1 gene prevent its interaction with the splicing factor U5-15kD].

Mizuguchi M

Seikagaku. the Journal of Japanese Biochemical Society, 2015

Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.

Mizuguchi M et al.

Nature Communications, 2014

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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."