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中文
这种自发突变通过补体测试的失败被证明与Oca2p等位。在位置56,357,112(GRCh38)检测到一个单个的C到A核苷酸转换，导致阿尔法密码子649变为天冬氨酸（p.A649D）。(来源：J:171807, J:207365, J:222308)
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
