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Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence.
Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, Shimizu N, Siddiqui R, Platzer M
BMC Genomics 2004, 5:92
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Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.
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