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中文
在exon 3的第187位，Threonine的密码子(ACG)被替换成了Asparagine(突变位点为p.T187N)，这是通过CRISPR/Cas9技术使用sgRNA和ssODN模板实现的。这个突变在编码肽上增加了第三个糖基化位点，之前已经有N180和N196两个。参考文献：J:297826
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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References Literature
Title
PMID
Journal
Year
IF
