Varaico: Literature-Extracted Genetic Variants

Gene:WDR91
Variant:p.L465_L466Splc
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WDR91

NM_014149.4:p.L465_L466Splc

Associated Papers

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Marinakis NM et al.

Clinical Genetics, 2026

Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort.

Sönmezler E et al.

Human Mutation, 2024

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Hiz Kurul S et al.

Brain : a Journal of Neurology, 2022

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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."