Varaico: Literature-Extracted Genetic Variants

Gene:SLC27A4
Variant:p.V477D
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SLC27A4

NM_005094.4:p.V477D

Associated Papers

Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome.

Tsuge I et al.

Human Genome Variation, 2015

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

Tao J et al.

Plos One, 2012

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

Sobol M et al.

Bmc Research Notes, 2011

Ichthyosis prematurity syndrome: a case report and review of known mutations.

Kiely C et al.

Pediatric Dermatology, 0

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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."