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中文
通过sgRNA(靶向GCAAGGCAAGCTTCGCACCA)和ssODN模板，用CRISPR/Cas9技术将lysine的948位点(AAG)替换为asparagine(AAA)，产生了c.2844G>T的变异，即p.K948N。这个变异等同于人类Aicardi-Goutieres综合症(AGS)中与p.K999N相关的变异。(来源：J:325221)
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
