Article
Connecting genotype and phenotype in minor spliceosome diseases.
RNA (New York, N.Y.) - 19 Feb 2025
Norppa Antto J, Shcherbii Mariia V, Frilander Mikko J
Abstract excerpt
Minor spliceosome is responsible for recognizing and excising a specific subset of divergent introns during the pre-mRNA splicing process. Mutations in the unique snRNA and protein components of the minor spliceosome are increasingly being associated with a variety of germline and somatic human disorders, collectively termed as minor spliceosomopathies. Understanding the mechanistic basis of these diseases has...
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