Articles with "approach mutation" as a keyword



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Whole genomic approach in mutation discovery of infantile spasms patients

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Published in 2022 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2022.944905

Abstract: Infantile spasms (IS) are a clinically and genetically heterogeneous group of epilepsy disorders in early infancy. The genetic backgrounds of IS have been gradually unraveled along with the increased application of next-generation sequencing (NGS). However,… read more here.

Keywords: whole genomic; genomic approach; infantile spasms; genetic diagnosis ... See more keywords