Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA3
Variant:p.S369*
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RPS6KA3

NM_004586.3:p.S369*

Associated Papers

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

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

Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.

Morani F et al.

Frontiers in Neurology, 2020

33584503 (PubMed )
Supplement: Table_3.XLSX › A

Systematic reconstruction of autism biology from massive genetic mutation profiles.

Luo W et al.

Science Advances, 2018

29651456 (PubMed )
Supplement: 1701799_TableS5.xlsx › LGD

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.

Luhrs K et al.

Autism Research and Treatment, 2017

29250444 (PubMed )
Supplement: 9371964.f1.xlsx › SI_Table3
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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."