Histone Variants at the Centromere
Background and Environment Affect Phenotype
Alternative RNA Splicing
Chromatin Structure Regulates pre-mRNA Processing
pre-mRNA Processing
RNA Splicing
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Updated: Jan 23, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Maria Barington1, Marie Balslev-Harder1, Thomas Krag2
1Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
Congenital myopathy-14 (CMYO14), a rare genetic disorder, was identified in a neonate with severe hypotonia and respiratory issues. This case highlights a novel intron variant in the MYL1 gene, expanding the known genetic causes of CMYO14.
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