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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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Tgm3
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基础信息
表型特征
文献报道
这种自发的C到T突变(c.896C>T),发生在7s外显子中,将一个保守的极性丝氨酸替换为非极性的亮氨酸(p.S299L),出自文献(J:225940)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1929708
B10.129P-Il4i1H46-b Emp3b Oca2p SelenosH47-b/(21M)Sn
Spontaneous
单点
隐性
1
2
2
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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