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中文
这种自发突变发生在染色体2:76,639,197(GRCh38)的第五内含子附近，紧邻一个保守的剪接起始点(来自文献J:176116, J:222308, J:223062)。
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
