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中文
在exon 7的第1041位(c.1041C>A)发生了无意义突变，导致密码子347从酪氨酸变成终止密码子(p.Tyr347Ter)。通过定量实时PCR检测，发现这个等位基因的转录显著减少，仅占野生型的0.1%以下。通过 Western blot技术，无法检测到翻译产物。(引用：J:241028)
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
