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中文
在第3193位的T到A突变导致了6号内含子的7号剪接接受位点失效。用同源突变小鼠的 Western blot 分析中未检测到正常蛋白。这种突变引起了未剪接中间体的积累以及6号外显子错误拼接到7号外显子内以及过早终止密码子的突变转录本。(来源：J:79725)
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
