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PubMed (OMIM) for id: 393
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A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.
Am J Med Genet A. 2012 Oct;158A(10):2511-8. doi: 10.1002/ajmg.a.35591. Epub 2012 Sep 10.
Am J Med Genet A. 2012.
PMID: 22965914
Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
Demura M, Takeda Y, Yoneda T, Furukawa K, Usukura M, Itoh Y, Mabuchi H.
Demura M, et al.
Hum Mutat. 2002 Jan;19(1):23-9. doi: 10.1002/humu.10011.
Hum Mutat. 2002.
PMID: 11754100
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Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus.
Schöneberg T, Pasel K, von Baehr V, Schulz A, Volk HD, Gudermann T, Filler G.
Schöneberg T, et al.
Hum Mutat. 1999;14(2):163-74. doi: 10.1002/(SICI)1098-1004(1999)14:2<163::AID-HUMU8>3.0.CO;2-B.
Hum Mutat. 1999.
PMID: 10425039
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An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells.
Tribioli C, Droetto S, Bione S, Cesareni G, Torrisi MR, Lotti LV, Lanfrancone L, Toniolo D, Pelicci P.
Tribioli C, et al.
Proc Natl Acad Sci U S A. 1996 Jan 23;93(2):695-9. doi: 10.1073/pnas.93.2.695.
Proc Natl Acad Sci U S A. 1996.
PMID: 8570618
Free PMC article.
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