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2017 | 2 |
2018 | 2 |
2020 | 1 |
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006.
Am J Hum Genet. 2017.
PMID: 29220674
Free PMC article.
Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.
Palumbo O, Accadia M, Palumbo P, Leone MP, Scorrano A, Palladino T, Stallone R, Bonaglia MC, Carella M.
Palumbo O, et al.
Eur J Med Genet. 2018 May;61(5):248-252. doi: 10.1016/j.ejmg.2017.12.008. Epub 2017 Dec 20.
Eur J Med Genet. 2018.
PMID: 29274487
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Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N.
Latham SL, et al.
Nat Commun. 2018 Oct 12;9(1):4250. doi: 10.1038/s41467-018-06713-0.
Nat Commun. 2018.
PMID: 30315159
Free PMC article.
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Further delineation of putative ACTB loss-of-function variants: A 4-patient series.
Baumann M, Beaver EM, Palomares-Bralo M, Santos-Simarro F, Holzer P, Povysil G, Müller T, Valovka T, Janecke AR.
Baumann M, et al.
Hum Mutat. 2020 Apr;41(4):753-758. doi: 10.1002/humu.23970. Epub 2020 Jan 16.
Hum Mutat. 2020.
PMID: 31898838
Free PMC article.
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