Mutations in a non-coding gene associated with intellectual disability
Briefly

from Ars Technica8 months ago
Ernest Turro found a genetic association linked to a neurodevelopmental abnormality using whole genome sequencing data from the 100,000 Genomes Project.
Ars Technicahttps://arstechnica.com/science/2024/05/mutations-in-a-non-coding-gene-associated-with-intellectual-disability/
Genes have modular sequences where protein-making instructions are interspersed with irrelevant DNA, requiring splicing by the cell's machinery called spliceosome.
Ars Technicahttps://arstechnica.com/science/2024/05/mutations-in-a-non-coding-gene-associated-with-intellectual-disability/
Read at Ars Technica
#intellectual-disabilities #genetics #whole-genome-sequencing #neurodevelopmental-abnormality #spliceosome
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