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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UPF3B

Variant:p.L181L

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UPF3B

NM_080632.3:p.L181L

hg38:chrX:119843230 G>A

Associated Papers

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.

Courraud J et al.

Molecular Psychiatry, 2024

38030819 (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."