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序列分析显示在编码位置211有一个C转T的突变，导致预成熟蛋白中Arginine46变为一个无意义密码子(p.R46*或p.R71*)。由此推测，这个等位基因会产生严重剪接后长度缩短的蛋白质产品。(来源：J:82263)
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
