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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PQBP1

Variant:p.P78Q

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PQBP1

NM_001032382.2:p.P78Q

hg38:chrX:48901983 C>A

Associated Papers

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

Trajkova S et al.

Hgg Advances, 2024

38751117 (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."