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中文
在基因1和2之间插入了487kb的片段，导致包含1号外显子的转录本表达受阻。插入似乎是一个X染色体更近区域的复制和易位事件。该基因的替代启动子产生了转录，生成的蛋白质产品没有细胞质定位信号，而是被运输到细胞核。总转录量也有所下降。(来源：J:104492)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
