Strategic validation of variants of uncertain significance inECHS1genetic testing

Overview of attention for article published in Journal of Medical Genetics, April 2023

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In the top 5% of all research outputs scored by Altmetric
Among the highest-scoring outputs from this source (#39 of 3,020)
High Attention Score compared to outputs of the same age (96th percentile)
High Attention Score compared to outputs of the same age and source (96th percentile)

So far, Altmetric has seen 6 news stories from 6 outlets.

The enzyme variations of mitochondrial enoyl-CoA hydratase short-chain 1 (ECHS1) are dysfunctional.

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The gene ECHS1 encodes for enoyl-CoA hydratase short-chain 1, a mitochondrial enzyme involved in branched-chain amino acid and…

The gene ECHS1 encodes for enoyl-CoA hydratase short-chain 1, a mitochondrial enzyme involved in branched-chain amino acid and…

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