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Germline Alu insertion in the human genome causes hemophilia and somatic L1 insertion causes colon cancer. L1 insertions have also been observed in Factor VIII and this causes hemophilia A. Disease causing L1 and Alu insertions are also found in genes that are X-linked inherited. >100 disease-causing retrotransposon insertions have been identified in humans [26 L1, 61 Alu, 12 SVA, 4 poly(A)].
