Articles with "rb1 pathogenic" as a keyword



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MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification

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Published in 2021 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2021.1923038

Abstract: ABSTRACT Background: Retinoblastoma (Rb) is a childhood tumor of the developing retina where predisposition is caused by RB1 pathogenic variants. MYCN amplification (MYCNA ) has been implicated in around 2% of sporadic unilateral Rb tumors… read more here.

Keywords: pathogenic variants; multiple ligation; mycn amplification; rb1 pathogenic ... See more keywords