Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.V528L
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HADHA

NM_000182.5:p.V528L

Associated Papers

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

Boese EA et al.

Ophthalmology, 2016

[Ocular signs of a mitochondrial trifunctional protein defect. A long-term follow-up].

Ach T et al.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2012

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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."