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中文
这个基因序列从16号外显子的3'端到17号外显子的5'端被替换，导致了74个氨基酸的酶活性区域缺失。这个等位基因预计会产生失去酶活性的蛋白质。通过定量实时PCR确认了目标区域缺失的转录本表达量降低。(来源：J:160248)
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
