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中文
通过CRISPR/Cas9技术，目标对准了密码子362的 cysteine(UGC)替换为serine(AGC)，产生p.C362S的变异。使用的sgRNA是(CACCGTTTCATTCAGGCTTGCCA)和ssODN模板(CACTGGTTCAAAGTGCCCTTCCCTGTCTGGGAAACCCAAGATCTTTTTCATTCAGGCTAGCCAAGGAAGTAACTTCCAGAAAGGAGTGCCTGATGAGGCAGGCTTCGAGCAACAGAAC)。这种改变导致编码的肽失去酶活性。(引用：J:285930)
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
