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中文
在第9外显子的C到T转换导致第394位的色氨酸(Trp)被替换为精氨酸(Arg)，形成R394W的突变。这个改变发生在Denys-Drash综合症患者的基因中。随后，通过同源重组在第9外显子3'末端插入了loxP引导的PGK-neo cassette。这种点突变在杂合子中都能表达两个等位基因，尽管突变转录本相对于野生型的水平有所降低。(来源：J:94225)
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
