Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.R308*
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SETD5

NM_001080517.3:p.R308*

Associated Papers

Defining Biological and Biochemical Functions of Noncanonical SET Domain Proteins.

Sun W et al.

Journal of Molecular Biology, 2024

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

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF

Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma.

Tang J et al.

Genome Medicine, 2021

34507604 (PubMed )
Supplement: 13073_2021_962_MOESM1_ESM.xlsx › Table_S5

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.

Deliu E et al.

Nature Neuroscience, 2018

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
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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."