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中文
在内含子5中的52bp外显子互补序列（ECS）被删除了。同时，GU1的剪接起始点cgGtatgta被替换成了cgCtatgta。这些改变阻碍了双链RNA结构的形成以及ADAR酶（RNA腺苷脱氨酶）的作用。（来源：J:228775）
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
