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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 2 |
2015 | 3 |
2024 | 0 |
PubMed (cited) for id: 615802
5 results
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Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.
Mol Cell Probes. 2015 Oct;29(5):323-9. doi: 10.1016/j.mcp.2015.05.012. Epub 2015 Jun 4.
Mol Cell Probes. 2015.
PMID: 26050939
Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.
Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S.
Williams C, et al.
Clin Genet. 2015 Dec;88(6):597-9. doi: 10.1111/cge.12581. Epub 2015 Mar 30.
Clin Genet. 2015.
PMID: 25823418
No abstract available.
Item in Clipboard
Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
Bosch DG, Boonstra FN, Kinoshita T, Jhangiani S, de Ligt J, Cremers FP, Lupski JR, Murakami Y, de Vries BB.
Bosch DG, et al.
Eur J Hum Genet. 2015 Dec;23(12):1689-93. doi: 10.1038/ejhg.2015.42. Epub 2015 Mar 25.
Eur J Hum Genet. 2015.
PMID: 25804403
Free PMC article.
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Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y, Tawamie H, Maeda Y, Büttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA.
Murakami Y, et al.
PLoS Genet. 2014 May 1;10(5):e1004320. doi: 10.1371/journal.pgen.1004320. eCollection 2014 May.
PLoS Genet. 2014.
PMID: 24784135
Free PMC article.
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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG.
Novarino G, et al.
Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363.
Science. 2014.
PMID: 24482476
Free PMC article.
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