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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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基础信息
表型特征
文献报道
这个等位基因包含一个大的基因组缺失,起始于大约6kb远离黑素细胞特异性的5'端,并包括了心脏特异性的5'端,涵盖了1H、1D和1B三个外显子(来源:J:21366, J:132153)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1856091
CBA/J
Spontaneous
基因内删除
隐性
1
16
4
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
No Data Found!
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