Genetic & Genomic MedicineHuman GeneticsPeer-reviewed
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved
Holly C. Beale, Victor Tse, J.Y. Lee…·Anne Michele Slavotinek
The paper identifies a pathogenic splice site variant in DEGS1 causing aberrant splicing and loss of enzyme activity in individuals with HLD18.
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