Genetic & Genomic MedicinemedRxivPreprint
FGF14 repeat length and mosaic interruptions: modifiers of SCA27B?
Joshua Laß, Mirja Thomsen, Max Borsche…·Joanne Trinh
The paper investigates FGF14 repeat interruptions in ataxia patients and unaffected individuals, finding that mosaic interruptions (mDRILS) correlate with age at onset and affect pathogenicity.
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