Varaico: Literature-Extracted Genetic Variants

Gene:EHHADH
Variant:p.G301S
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EHHADH

NM_001966.4:p.G301S

Associated Papers

Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.

Boese EA et al.

Ophthalmology, 2016

Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.

Elizondo G et al.

Molecular Genetics and Metabolism, 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."