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Year | Number of Results |
---|---|
2000 | 1 |
2004 | 1 |
2012 | 1 |
2016 | 1 |
2018 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 221692
5 results
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Page 1
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.
Brain. 2018 Nov 1;141(11):3098-3114. doi: 10.1093/brain/awy246.
Brain. 2018.
PMID: 30256902
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.
Kiando SR, Tucker NR, Castro-Vega LJ, Katz A, D'Escamard V, Tréard C, Fraher D, Albuisson J, Kadian-Dodov D, Ye Z, Austin E, Yang ML, Hunker K, Barlassina C, Cusi D, Galan P, Empana JP, Jouven X, Gimenez-Roqueplo AP, Bruneval P, Hyun Kim ES, Olin JW, Gornik HL, Azizi M, Plouin PF, Ellinor PT, Kullo IJ, Milan DJ, Ganesh SK, Boutouyrie P, Kovacic JC, Jeunemaitre X, Bouatia-Naji N.
Kiando SR, et al.
PLoS Genet. 2016 Oct 28;12(10):e1006367. doi: 10.1371/journal.pgen.1006367. eCollection 2016 Oct.
PLoS Genet. 2016.
PMID: 27792790
Free PMC article.
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Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE.
de Ligt J, et al.
N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.
N Engl J Med. 2012.
PMID: 23033978
Free article.
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Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory proteins.
Allen PB, Greenfield AT, Svenningsson P, Haspeslagh DC, Greengard P.
Allen PB, et al.
Proc Natl Acad Sci U S A. 2004 May 4;101(18):7187-92. doi: 10.1073/pnas.0401673101. Epub 2004 Apr 23.
Proc Natl Acad Sci U S A. 2004.
PMID: 15107502
Free PMC article.
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Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Kikuno R, Hattori A, Kondo Y, Okumura K, Ohara O.
Nagase T, et al.
DNA Res. 2000 Dec 31;7(6):347-55. doi: 10.1093/dnares/7.6.347.
DNA Res. 2000.
PMID: 11214970
Free article.
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