Varaico: Literature-Extracted Genetic Variants

Gene:UBR5
Variant:p.L251delFs
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UBR5

NM_015902.6:p.L251delFs

Associated Papers

UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.

Reuter MS et al.

Npj Genomic Medicine, 2025

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.

Vilela J et al.

Frontiers in Molecular Neuroscience, 2022

36061363 (PubMed )
Supplement: Table_7.xlsx › Rare_de_novo_LoF
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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."