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中文
这个在匹兹堡大学进行的筛选中发现的突变是由ENU诱发的。分子突变是cDNA第15外显子第2329位的T到C替换（c.2329T>C，NM_001081055），导致编码蛋白质的酪氨酸（Y777）位置被替换为组氨酸（p.Y777H）。（来源：J:175213）
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 |
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References Literature
Title
PMID
Journal
Year
IF
