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中文
预测的孔部区域和相邻的第五、六个跨膜段的外显子通过同源重组被删除了。对皮肤进行的RT-PCR结果显示，这些突变体缺乏野生型蛋白。检测到了少量剪切片段的低水平存在。(来源：J:96549)
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
