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中文
一段1.4kb的基因片段，包括第6外显子，通过Cre介导的重组被移除。RT-PCR检测到杂合体中转录物量的减少。测序显示，5-7号外显子的剪接产生了这个转录本，因为这导致了第452位密码子的框架移位突变。(来源：J:107917)
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
