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中文
在mRNA的第224位检测到一个A到G的替换，这对应于exon 5的splice donor site前的第8个碱基，导致在第54个氨基酸后产生一个早终止密码子(S54X)。纯合MEFs表现出丢失的蛋白免疫染色，这表明这是一种无功能基因(来源：J:94456, J:205269)。
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
