Publications:

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

American Journal Of Human Genetics

Zech, Michael M; Boesch, Sylvia S; Maier, Esther M EM; Borggraefe, Ingo I; Vill, Katharina K; Laccone, Franco F; Pilshofer, Veronika V; Ceballos-Baumann, Andres A; Alhaddad, Bader B; Berutti, Riccardo R; Poewe, Werner W; Haack, Tobias B TB; Haslinger, Bernhard B; Strom, Tim M TM; Winkelmann, Juliane J

Publication Date: 2016-12-01

Variant appearance in text: NYNRIN: 2483G>A; Gly828Glu

PubMed Link: 27839873

Variant Present in the following documents:

• Main text

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