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中文
这个描述的变异发生在12号染色体的ENU介导的T到A替换，位置是8,470,110 base pair (v38)或者NC_000078基因组区域的86,758 base pair。这个变异对应NM_053122 mRNA序列的第4个外显子的第274位氨基酸，总共有7个外显子。这个改变导致了编码蛋白质的亮氨酸(L)48被替换为一个早终止密码子(L48*)。参考文献为J:236672。
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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References Literature
Title
PMID
Journal
Year
IF
