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A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia

2022-04-24

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The principal component of the protein homeostasis network is the ubiquitin-proteasome system. Ubiquitination is mediated by an enzymatic cascade involving, i.e., E3 ubiquitin ligases, many of which belong to the cullin-RING ligases family. Genetic defects in the ubiquitin-proteasome system components, including cullin-RING ligases, are known causes of neurodevelopmental disorders. Using exome sequencing to diagno...

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Literature Corpus work: 7b788211-7929-5092-97a1-cfdd0da2829f
DOI: 10.1101/2022.04.24.489208

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A novel <i>de novo</i> FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia

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