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中文
一个新合成的cassette替换了7和8号外显子，它们编码部分激酶域。对突变等位基因的mRNA测序确认了7和8号外显子缺失，并表明产生了一个早终止密码子，导致产生了只含部分激酶域的截短蛋白。转染实验表明，突变蛋白无法像野生型那样正常工作。(来源：J:91363)
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
