Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.V39D
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MOCS2

NM_004531.5:p.V39D

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-s008.pdf
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