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中文
在exon 3的第181位，酪氨酸被一个A-T转换变异替换成了苯丙氨酸。此外，诊断用的EcoRI酶切位点也在exon 3中插入，同时还有一个含floxed neo cassette的元件。(来源：J:155586)
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
