When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding ...
Schematic representation summarising MASLD-associated long non-coding RNAs (lncRNAs) and their relevant targets in hepatocytes: human leukocyte antigen (HLA) complex group 18 (HCG18), nuclear enriched ...
Three unrelated children with deletions of CHASERR, a long non-coding RNA, had a severe neurological disorder not previously identified. The three children with CHASERR deletions had greater ...
Novel Gene and Variant Discovery in Human Genetic Disorders: From Coding and Non-Coding RNA variants
Rapid advances in sequencing technologies have transformed our ability to diagnose human genetic disorders, yet many patients still lack a molecular ...
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