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中文
这项序列分析表明，该等位基因在内含子4的3'剪接接受位点存在一个A到G的碱基替换，导致exon 5的剪接接受位点从ATG变为TGG，从而失去了这个外显子的剪接。(来源：J:8332, J:8514, J:20245, J:42978, J:42979)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
