Varaico: Literature-Extracted Genetic Variants

Gene:WDR26
Variant:p.Q387_T388delFs
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WDR26

NM_001379403.1:p.Q387_T388delFs

Associated Papers

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

Lin X et al.

European Journal of Medical Research, 2025

40826479 (PubMed )
Supplement: 40001_2025_3024_MOESM2_ESM.xlsx › Sheet1

Skraban-Deardorff intellectual disability syndrome-associated mutations in WDR26 impair CTLH E3 complex assembly.

Gross A et al.

Febs Letters, 2024

38575527 (PubMed )
Supplement: EMS198546-supplement-Supplemental_material.pdf

Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability.

Hu J et al.

Genes, 2022

35627197 (PubMed )
Supplement: genes-13-00813-s001.zip › genes-1688186-supplementary › Supplementary_Table_S1-final.xlsx › Sheet2
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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."