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中文
这种在第三外显子中自发插入一个G碱基导致了从第140位氨基酸开始的框架移位，预测会产生一个异常的蛋白质序列，并在第178位带有终止密码子。视网膜RNA的RT-PCR结果显示表达量下降了3倍，而 Western blotting 未能检测到蛋白质产品。(来源：163743)
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
