Diphthamide biosynthesis protein 1
Definition:
References:
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[1]. Harmen Hawer, et al. Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy. Eur J Hum Genet. 2020 Nov;28(11):1497-1508. [Content Brief]
[2]. W Bruening, et al. Expression of OVCA1, a candidate tumor suppressor, is reduced in tumors and inhibits growth of ovarian cancer cells. Cancer Res. 1999 Oct 1;59(19):4973-83. [Content Brief]
[3]. Roser Urreizti, et al. DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. Eur J Hum Genet. 2020 Jan;28(1):64-75. [Content Brief]
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