FGF14 repeat length and mosaic interruptions: modifiers of SCA27B?
Joshua Laß, Mirja Thomsen, Max Borsche, Theresa Lüth, Julia C. Prietzsche, Susen Schaake, Andona Milovanović, Hannah L. Macpherson, Emil Karl Gustavsson, Paula Saffie Awad, Nataša Mišković, Björn‐Hergen Laabs, Inke Regina König, Ana Westenberger, Christopher E. Pearson, , 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.
medRxiv · Nov 21, 2024 · PreprintGenetic & Genomic Medicine