Varaico: Literature-Extracted Genetic Variants

Gene:CERT1
Variant:p.S263C
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CERT1

NM_001130105.1:p.S263C

Associated Papers

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Gehin C et al.

The Journal of Clinical Investigation, 2023

Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.

Tamura N et al.

The Journal of Biological Chemistry, 2021

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."