Stargardt disease type 1 (STGD1) is an inherited retinal recessive disease caused by biallelic variants in the ABCA4 gene. One of the recurrent variants is located at the exon-intron junction of exon ...
Transcribe, splice, and everything’s nice—at least in healthy people. Scientists are finding that abnormal splicing, and genetic variants that cause it, may kickstart some neurodegenerative diseases.
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