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中文
CRISPR/Cas9基因编辑技术用于引入c.1343位点的C到T替换（p.Pro448Leu，P448L），以及一个编码无义突变的额外核苷酸变化（P451P，CCC转为CCA）。这种变异与严重的先天性肌肉 dystrophy（CMD）关联。（来源：J:101977）
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
