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中文
这种突变是位于第30外显子4645位的无义突变，该序列编码FRAS1中神经-胶质抗原-2的硫酸软骨素蛋白聚糖重复区域。基4645处的胞嘧啶替换为胸腺嘧啶（C4645T）导致编码蛋白的第1263位氨基酸发生改变，从谷氨酰胺变为终止密码子。突变体肢体芽产生的RNA中，转录水平下降了（c.3787C>T，p.Q1263* (NM_175473.3)）。参考文献：J:231083。
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
