Varaico: Literature-Extracted Genetic Variants

Gene:CERT1
Variant:p.F182L
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CERT1

NM_001379029.1:p.F182L

Associated Papers

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Gehin C et al.

The Journal of Clinical Investigation, 2023

Involvement of a Cluster of Basic Amino Acids in Phosphorylation-Dependent Functional Repression of the Ceramide Transport Protein CERT.

Goto A et al.

International Journal of Molecular Sciences, 2022

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 › DbMS-non_synonymous_ex

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.

Murakami H et al.

Plos One, 2020

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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."