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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WDR26

Variant:p.Q472*

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WDR26

NM_025160.7:p.Q472*

hg38:chr1:224400955 G>A

Associated Papers

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

Lin X et al.

European Journal of Medical Research, 2025

40826479 (PubMed )

Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients.

Yang Q et al.

Frontiers in Pediatrics, 2024

39363971 (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."