Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.R283_K284delFs
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ECHS1

NM_004092.4:p.R283_K284delFs

Associated Papers

Disease models of Leigh syndrome: From yeast to organoids.

Henke MT et al.

Journal of Inherited Metabolic Disease, 2024

Development of iPSC-based clinical trial selection platform for patients with ultrarare diseases.

Sequiera GL et al.

Science Advances, 2022

Generation of human induced pluripotent stem cell (hiPSC) line UOMi001-A from a patient with Leigh-like syndrome harbouring compound heterozygous variants in ECHS1 gene.

Sequiera GL et al.

Stem Cell Research, 2020

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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."