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中文
CRISPR/Cas9技术被用来在第18外显子产生一个C到T的变异，导致第924位的arginine变为tryptophan（R924W）。这个变异对应于人类中SPONASTRIME综合症患者所见的p.Arg934Trp变异。报告了两条线，A线和B线，其中A线被选作代表线，并以这个等位基因形式录入（来源：J:282817）。
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
