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2015
2025
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Year | Number of Results |
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2015 | 2 |
2016 | 1 |
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De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26.
Am J Hum Genet. 2015.
PMID: 25728775
Free PMC article.
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A.
Tham E, et al.
Am J Hum Genet. 2015 Mar 5;96(3):507-13. doi: 10.1016/j.ajhg.2015.01.016. Epub 2015 Feb 26.
Am J Hum Genet. 2015.
PMID: 25728777
Free PMC article.
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Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S.
Millan F, et al.
Am J Med Genet A. 2016 Jul;170(7):1791-8. doi: 10.1002/ajmg.a.37670. Epub 2016 May 2.
Am J Med Genet A. 2016.
PMID: 27133397
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