Varaico: Literature-Extracted Genetic Variants

Gene:SLC27A4
Variant:p.T329_I330Splc
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SLC27A4

NM_005094.4:p.T329_I330Splc

Associated Papers

Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism.

Khnykin D et al.

Journal of the American Academy of Dermatology, 2012

A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.

Tao J et al.

Plos One, 2012

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."