Long-Read RNA Sequencing Reveals Extensive Transcript Isoform Changes in a Patient with IFAP Syndrome with a Recurrent Intronic MBTPS2 Variant
April 2026
in “
Human Genome Variation
”
Studysummary This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
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