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Year | Number of Results |
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1996 | 1 |
2009 | 2 |
2015 | 1 |
2024 | 0 |
PubMed (cited) for id: 610512
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Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
Am J Hum Genet. 2015 Nov 5;97(5):661-76. doi: 10.1016/j.ajhg.2015.10.001. Epub 2015 Oct 29.
Am J Hum Genet. 2015.
PMID: 26522472
Free PMC article.
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
Bianchi P, Fermo E, Vercellati C, Boschetti C, Barcellini W, Iurlo A, Marcello AP, Righetti PG, Zanella A.
Bianchi P, et al.
Hum Mutat. 2009 Sep;30(9):1292-8. doi: 10.1002/humu.21077.
Hum Mutat. 2009.
PMID: 19621418
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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H.
Schwarz K, et al.
Nat Genet. 2009 Aug;41(8):936-40. doi: 10.1038/ng.405. Epub 2009 Jun 28.
Nat Genet. 2009.
PMID: 19561605
Free article.
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Cloning and functional characterization of mammalian homologues of the COPII component Sec23.
Paccaud JP, Reith W, Carpentier JL, Ravazzola M, Amherdt M, Schekman R, Orci L.
Paccaud JP, et al.
Mol Biol Cell. 1996 Oct;7(10):1535-46. doi: 10.1091/mbc.7.10.1535.
Mol Biol Cell. 1996.
PMID: 8898360
Free PMC article.
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