Article

Comprehensive bioinformatics analysis of <i>L1CAM</i> gene revealed Novel Pathological mutations associated with L1 syndrome

2019-02-27

Abstract excerpt

<h4>Background</h4> Mutations in the human L1CAM gene cause a group of neurodevelopmental disorders known as L1 syndrome (CRASH syndrome). The L1CAM gene provides instructions for producing the L1 protein, which is found all over the nervous system on the surface of neurons. L1 syndrome involves a variety of characteristics but the most common characteristic is muscle stiffness. Patients with L1 syndrome can also...

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Literature Corpus work: 894e0f1b-b6d0-5357-86cf-e7611f9dcd62
DOI: 10.1101/561431

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