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通过cDNA分析，我们发现这个等位基因在转录NM_001122733的第1783位编码核苷酸上有一个G到A的转换，导致酪氨酸激酶域中甘氨酸变为arginine，位置为595（p.G595R）。(来源：J:27513)
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
