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中文
这个分子异常是基因的第3外显子第273位单个G缺失，导致在第91位氨基酸位置产生移码，进而破坏了编码蛋白质的第三个和第四个希腊钥匙结构。结果产生了一个在C端附带一个与编码蛋白无关的75氨基酸的突变蛋白。(来源：J:250425)
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
