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中文
3-6号外显子被删除，并被抗氨苄青霉素抗性基因替换。这导致了Ig域C1的N端缺失，以及C0和C1区间的连接段。由此产生的缩短版的心脏特异性变异体(cMyBP-C)其结构类似骨骼变异体(sMyBP-C)。(来源：J:264726)
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
