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EN
TALEN targeting inserted a donor template consisting of a 11 bp (CAATGTTCAGC) duplication in exon 9 along with a floxed neomycin selection cassette inserted 5' of exon 9. This duplication is present in a subset of mosaic-variegated aneuploidy (MVA) patients and truncates the protein. (J:264300)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
