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中文
这个等位基因的直接序列与正常c-kit相比，显示了一个在酪氨酸激酶域的ATP结合环的保守序列中的G到A的非同义编码突变，导致第595位的甘氨酸被替换为谷氨酸（p.G595E）。（来源：J:151778）
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
