Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.L386F
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KCNT1

NM_020822.3:p.L386F

Associated Papers

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

34688657 (PubMed )
Supplement: mmc1.pdf
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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."