Varaico: Literature-Extracted Genetic Variants

Gene:CERT1
Variant:p.S135F
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CERT1

NM_001379029.1:p.S135F

Associated Papers

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-s016.xlsx › Table_S1

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_
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