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中文
CRISPR/Cas9技术产生了一个arginine替换为glutamine的氨基酸232位（p.R232Q）。p.R232Q是一个在两兄弟中发现的罕见的错义变异，与一种进行性的神经病变综合症相关（来源：J:335315）。
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
