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Title:

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

Document type:
Zeitschriftenaufsatz
Author(s):
Kreienkamp, Hans-Jürgen ; Wagner, Matias ; Weigand, Heike ; McConkie-Rossell, Allyn ; McDonald, Marie ; Keren, Boris ; Mignot, Cyril ; Gauthier, Julie ; Soucy, Jean-François ; Michaud, Jacques L. ; Dumas, Meghan ; Smith, Rosemarie ; Löbel, Ulrike ; Hempel, Maja ; Kubisch, Christian ; Denecke, Jonas ; Campeau, Philippe M. ; Bain, Jennifer M. ; Lessel, Davor
Keywords:
Original Investigation ; Human Genetics ; Molecular Medicine ; Gene Function ; Metabolic Diseases
Journal title:
Human Genetics
Year:
2021
Journal volume:
141
Journal issue:
2
Pages contribution:
257-272
Fulltext / DOI:
doi:10.1007/s00439-021-02412-x
Publisher:
Springer Berlin Heidelberg
E-ISSN:
0340-6717 ; 1432-1203
Notes:
0
Date of publication:
14.12.2021
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