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Detailed info
HAEUID:
194
owner:
trascasa-lab
type:
deletion
size(~kb):
2.6
affected exons:
7
Reference:
Roche O. et al. (Human Mutation 2005 26(2), 135-144)
Family history:
positive
Ncases:
0
notes:
Detected by Southern blot and QMPSF
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(registered labs only)