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Page 1
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
Genes (Basel). 2017 Oct 18;8(10):276. doi: 10.3390/genes8100276.
Genes (Basel). 2017.
PMID: 29057844
Free PMC article.
Review.
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Größer L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmüller J, Rütten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nürnberg P, Kruse R, Schoch S, Hanneken S, Betz RC.
Basmanav FB, et al. Among authors: grosser l.
Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003.
Am J Hum Genet. 2014.
PMID: 24387993
Free PMC article.
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