Varaico: Literature-Extracted Genetic Variants

Gene:CERT1
Variant:p.T251A
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CERT1

NM_001379029.1:p.T251A

Associated Papers

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Gehin C et al.

The Journal of Clinical Investigation, 2023

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

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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."