Article

Bi-allelic variants in <i>CHKA</i> cause a neurodevelopmental disorder with epilepsy and microcephaly

2021-10-31

Abstract excerpt

The Kennedy pathways catalyze the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus since four out of ten genes involved have been associated with a range of autosomal recessive rare diseases such as a neurodevelopmental disorder with muscular dystrophy ( CHKB ), bone abnor...

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Literature Corpus work: b2e18903-a17d-524a-9653-47e35dd94197
DOI: 10.1101/2021.10.21.21265050

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