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中文
CRISPR/Cas9技术产生了一个C到T的转换，导致第105位的丝氨酸被甲硫氨酸替代（p.T105M），位于第6外显子。为防止gRNA与序列的结合和再切割，引入了两个同义突变，p.S106（AGC替换为TCA）和p.S110（AGC替换为TCG）。这是一项与Charcot-Marie-Tooth病类型2A相关的变异。（来源：J:342938）
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
