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Identification of two compound heterozygousVPS13Alarge deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis
Spieler D., Velayos‐Baeza A., Mühlbäck A., Castrop F., Maegerlein C., Slotta‐Huspenina J., Bader B., Haslinger B., Danek A.
DOI
10.1002/mgg3.1179
Type
Journal article
Journal
Molecular Genetics & Genomic Medicine
Publisher
Wiley
Publication Date
09/2020
Volume
8