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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001.
Am J Hum Genet. 2021.
PMID: 33961779
Free PMC article.
Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry.
Höller V, Seebacher H, Zach D, Schwegel N, Ablasser K, Kolesnik E, Gollmer J, Waltl G, Rainer PP, Verheyen S, Zirlik A, Verheyen N.
Höller V, et al.
Genes (Basel). 2021 Sep 23;12(10):1469. doi: 10.3390/genes12101469.
Genes (Basel). 2021.
PMID: 34680864
Free PMC article.
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