H5 variant, partial [Homo sapiens]

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A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation. [Am J Med Genet A. 2021]
A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation.
Peter B, Scherer N, Liang WS, Pophal S, Nielsen C, Grebe TA. Am J Med Genet A. 2021 May; 185(5):1532-1537. Epub 2021 Feb 11.
Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22. [J Clin Invest. 1994]
Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22.
Kelly MD, Essex DW, Shapiro SS, Meloni FJ, Druck T, Huebner K, Konkle BA. J Clin Invest. 1994 Jun; 93(6):2417-24.
Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta. [J Biol Chem. 1994]
Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta.
Yagi M, Edelhoff S, Disteche CM, Roth GJ. J Biol Chem. 1994 Jul 1; 269(26):17424-7.

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