A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

Overview of attention for article published in Human Genome Variation, April 2019

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So far, Dimensions has found 14 publications that cite this research output.

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The most recent citing publications are shown below. View all 14 publications that cite this research output on Dimensions.

Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity

Article in Metabolic Brain Disease (February 2024)

Strategic validation of variants of uncertain significance in ECHS1 genetic testing

Article in Journal of Medical Genetics (April 2023)

Strategic validation of variants of uncertain significance in ECHS1 genetic testing

Preprint in medRxiv (October 2022)