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在第3外显子引入了一个N195K的错义突变，但并未影响转录水平或信使RNA的稳定性。然而，心脏中检测到了突变的 lamin C 蛋白，其表达量低于野生型，表明该蛋白质的稳定性低于野生型。(来源：J:100393)
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
