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中文
在内含子4中，一个T到A的核苷酸替换破坏了一个捐赠的剪接信号，从A-GT变成了A-GA。这导致了剪接错误和框移，产生了一个新的终止密码子在exon 5。这个转录本很可能通过了无义介导的降解途径的激活，从而成为功能丧失的突变。(来源：J:93014, J:96349)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
