Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1892
Abstract: Neurodegenerative disorders and leukodystrophies are progressive neurologic conditions that can occur following the disruption of intricately coordinated patterns of gene expression. Exome sequencing has been adopted as an effective diagnostic tool for determining the underlying… read more here.
Keywords: progressive neurologic; genome sequencing; etiology; neurologic disease ... See more keywords