Varaico: Literature-Extracted Genetic Variants

Gene:CERT1
Variant:p.S260F
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CERT1

NM_001379029.1:p.S260F

Associated Papers

Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.

Kim YM et al.

Journal of Clinical Medicine, 2023

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Gehin C et al.

The Journal of Clinical Investigation, 2023

36976648 (PubMed )
Supplement: jci-133-165019-s008.pdf

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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