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Year | Number of Results |
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2008 | 1 |
2012 | 1 |
2017 | 2 |
2024 | 0 |
PubMed (OMIM) for id: 55773
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Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Am J Hum Genet. 2017 Sep 7;101(3):428-440. doi: 10.1016/j.ajhg.2017.07.010. Epub 2017 Aug 17.
Am J Hum Genet. 2017.
PMID: 28823707
Free PMC article.
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG.
Marin-Valencia I, et al.
Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17.
Am J Hum Genet. 2017.
PMID: 28823706
Free PMC article.
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Spatiotemporal inhibition of innate immunity signaling by the Tbc1d23 RAB-GAP.
De Arras L, Yang IV, Lackford B, Riches DW, Prekeris R, Freedman JH, Schwartz DA, Alper S.
De Arras L, et al.
J Immunol. 2012 Mar 15;188(6):2905-13. doi: 10.4049/jimmunol.1102595. Epub 2012 Feb 6.
J Immunol. 2012.
PMID: 22312129
Free PMC article.
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Identification of innate immunity genes and pathways using a comparative genomics approach.
Alper S, Laws R, Lackford B, Boyd WA, Dunlap P, Freedman JH, Schwartz DA.
Alper S, et al.
Proc Natl Acad Sci U S A. 2008 May 13;105(19):7016-21. doi: 10.1073/pnas.0802405105. Epub 2008 May 7.
Proc Natl Acad Sci U S A. 2008.
PMID: 18463287
Free PMC article.
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