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Splice Site Variants in the Canonical Donor Site of MED13L Exon 7 Lead to Intron Retention in Patients with MED13L Syndrome.

Jade Fauqueux,Simon Boussion,Caroline Thuillier, Evine Meurisse,Didier Lacombe,Marjolaine Willems,Amelie Piton,Emilie Ait-Yahya,Jamal Ghoumid,Thomas Smol

JOURNAL OF MEDICAL GENETICS（2024）

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Key words
RNA Splicing,Sequence Analysis,DNA,Sequence Analysis,RNA
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