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中文
Exon 16被替换成了在第3082位插入了一个C碱基的版本(3082insC)。这个等位基因与 mucolipidosis type II(ML II)患者中发现的相似。通过 Western blot 分析确认了mannose-6-phosphate 包含蛋白的缺失。(来源：J:162133)
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
