Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.K90*
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AKR1B1

NM_001628.4:p.K90*

Associated Papers

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.

Ferese R et al.

Frontiers in Neurology, 2023

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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."