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中文
在exon 36有一个C到T的转换，导致了一个早发的终止密码子（Q1033X）。半定量PCR结果显示mRNA水平下降。 Western blot和免疫组化检查在纯合子中未检测到蛋白质。(来源：J:153042)
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
