Varaico: Literature-Extracted Genetic Variants

Gene:WDR26
Variant:p.E426*
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WDR26

NM_025160.7:p.E426*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

WDR26-related Skraban-Deardorff syndrome: clinical, genetic and pathomechanistic insights.

Lin X et al.

European Journal of Medical Research, 2025

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

Gibson KM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Skraban CM et al.

American Journal of Human Genetics, 2017

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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."