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Heide, Ev-Christin, Puk, Oliver, Biskup, Saskia, Krahn, Arne, Rauf, Erik, Kreilkamp, Barbara AK 
ORCID: 0000-0001-6881-5191, Paulus, Walter and Focke, Niels K
(2021)
A novel likely pathogenic heterozygous <i>HECW2</i> missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 185 (12).
pp. 3838-3843.