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Somatic Mutations in Brain Malformations by shavana is a document available to read on EtoBox.

This study investigates the prevalence and detection of somatic mutations in neurodevelopmental disorders, specifically cerebral cortical malformations. Using targeted high-coverage sequencing, the authors identified causal mutations in 27 out of 158 patients, with 30% of these being somatic mutations, particularly in conditions like double-cortex syndrome and periventricular nodular heterotopia. The findings suggest that targeted sequencing is effective for detecting somatic mutations, highlighting its imp

Author

shavana

Language

EN