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中文
TALEN技术产生了一个19个碱基对的缺失(等位基因c.1258_127del)，位于第7外显子。这个缺失预测会导致在第431位产生一个早发终止密码子，类似于患者变异p.Arg410*。 Western blot结果显示纯合子中没有蛋白表达。(来源：J:256227)
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
