Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.L148delFs
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PURA

NM_005859.5:p.L148delFs

Associated Papers

PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 PURA variant.

Wang Y et al.

Journal of Medical Genetics, 2025

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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."