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中文
这种突变被识别为在exon 2中的一个C到A替换（c.204C>A），导致非保守的错义丝氨酸替换为赖氨酸（p.N68K）。 Western blot结果显示，该表达蛋白存在于纯合子小鼠的胰岛细胞中。（来源：J:108421）
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
