Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4
Variant:p.C163R
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ELOVL4

NM_022726.4:p.C163R

Associated Papers

Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.

Alabdulrazzaq F et al.

Molecular Genetics & Genomic Medicine, 2023

Incomplete Elongation of Ultra-long-chain Polyunsaturated Acyl-CoAs by the Fatty Acid Elongase ELOVL4 in Spinocerebellar Ataxia Type 34.

Tamura Y et al.

Molecular and Cellular Biology, 2023

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.

Diociaiuti A et al.

Genes, 2021

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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."