Varaico: Literature-Extracted Genetic Variants

Gene:ACSL5
Variant:p.Q693_V694Splc
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ACSL5

NM_016234.4:p.Q693_V694Splc

Associated Papers

Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression.

Pérez-Núñez I et al.

European Journal of Human Genetics : Ejhg, 2019

A splice variant in the ACSL5 gene relates migraine with fatty acid activation in mitochondria.

Matesanz F et al.

European Journal of Human Genetics : Ejhg, 2016

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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."