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中文
在编码肽的D1腺苷三磷酸酶域，通过sgRNA(靶向CCTGCGCTGTTTAAGGCGATTGG)和ssODN模板(AGATAAAGGAGATGGTGGAGCTGCCACTGAGACATCCTGCACTGTTTAAAGAGATTGGTGTAAAGGTGAGTATCCTAAGGTCTGTGGGGAGTCT)使用CRISPR/Cas9技术，阿尔胺酸的第232位(密码子GCG)被替换为谷氨酸(密码子GAG)，产生了p.A232E的突变。这个功能增强的变异与人类的多系统蛋白病相关联。(来源：J:325062)
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
