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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 2
1997 1
1999 1
2000 2
2001 2
2002 1
2003 1
2004 2
2005 2
2006 3
2007 1
2008 2
2009 1
2012 1
2013 2
2014 1
2020 1
2024 0

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PubMed (OMIM) for id: 10524

26 results

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Page 1
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Humbert J, Salian S, Makrythanasis P, Lemire G, Rousseau J, Ehresmann S, Garcia T, Alasiri R, Bottani A, Hanquinet S, Beaver E, Heeley J, Smith ACM, Berger SI, Antonarakis SE, Yang XJ, Côté J, Campeau PM. Humbert J, et al. Am J Hum Genet. 2020 Sep 3;107(3):564-574. doi: 10.1016/j.ajhg.2020.08.002. Epub 2020 Aug 20. Am J Hum Genet. 2020. PMID: 32822602 Free PMC article.
ANP32E is a histone chaperone that removes H2A.Z from chromatin.
Obri A, Ouararhni K, Papin C, Diebold ML, Padmanabhan K, Marek M, Stoll I, Roy L, Reilly PT, Mak TW, Dimitrov S, Romier C, Hamiche A. Obri A, et al. Nature. 2014 Jan 30;505(7485):648-53. doi: 10.1038/nature12922. Epub 2014 Jan 22. Nature. 2014. PMID: 24463511
26 results