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Detailed info
HAEUID:
191
owner:
trascasa-lab
type:
insertion
size(~kb):
1.2
affected exons:
4
Reference:
Roche O. et al. (Human Mutation 2005 26(2), 135-144)
Family history:
positive
Ncases:
0
notes:
Duplication, detected by Southern blot and QMPSF
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(registered labs only)