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中文
这种含有内含子4最后279bp、外显子5全部83bp以及内含子5开头175bp的串联重复，导致两个外显子5副本间的接合处产生了一个早发性终止密码子(F187X)。预测的蛋白质产物缺失了449完整长度蛋白质的262个残基。(来源：J:137595)
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
