Varaico: Literature-Extracted Genetic Variants

Gene:SLC27A4
Variant:p.S247P
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SLC27A4

NM_005094.4:p.S247P

Associated Papers

Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65.

Li S et al.

Febs Letters, 2020

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome.

Sobol M et al.

Bmc Research Notes, 2011

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

Klar J et al.

American Journal of Human Genetics, 2009

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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."