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中文
在染色体1的v38位置，由ENU诱导的C到T的转换，具体位置是15,885,713(基因组1)或123,392(NC_000067的GenBank区域)。这个变异等同于mRNA序列NM_001085376中第2,432位的氨基酸替换，发生在一个有22个外显子的第4个外显子内，导致PAPP-A2蛋白的第811位由Thr变为Ile(替换为T811I)。参考文献：J:271980。
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
