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中文
所有已知变异中都有的两个外显子被替换成抗氨苄青霉素抗性基因座，导致阅读框断裂，使基因失去活性。在突变的脂肪组织、肝脏、肌肉和心脏中都确认了转录本的缺失。(来源：J:121762)
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
