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. 2000 Jul;37(7):e6. doi: 10.1136/jmg.37.7.e6

Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense

H SCHEFFER, P VAN DER VLIES, M BURTON, E VERLIND, A MOLL, S IMHOF, C BUYS
PMCID: PMC1734638  PMID: 10882758

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