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中文
在exon 12中的一个C到T的转换导致了Arginine变为Cysteine（R265C）的替换，产生了轻度表型异常。通过定量实时PCR测量RNA和通过Western Blot及免疫组化分析，结果显示蛋白水平与野生型无差异。(来源：J:165341)
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
