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A novel synonymous variant in the F8 gene, p.(Leu40=)/c.120C>A, likely causes mild haemophilia A.
Hiroshi Inaba
K Shinozawa
K Fukutake
K Amano
Published in:
Haemophilia : the official journal of the World Federation of Hemophilia (2018)
Keyphrases
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copy number
genome wide
genome wide identification
transcription factor
genome wide analysis