Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

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 genetic eti...

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Bibliographic Details
Main Authors: Nicholas Borja, Stephanie Bivona, Lé Shon Peart, Brittany Johnson, Joanna Gonzalez, Deborah Barbouth, Henry Moore, Shengru Guo, Undiagnosed Disease Network, Guney Bademci, Mustafa Tekin
Format: Article
Language:English
Published: Wiley 2022-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
PLA2G6
LMNB1
progressive neurologic disease
noncoding variants
Online Access:https://doi.org/10.1002/mgg3.1892

Internet

https://doi.org/10.1002/mgg3.1892

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