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中文
CRISPR/Cas9技术在第33外显子6691-6696位插入了终止密码子(ACCAAG转为TAATGA)，导致T2231X变异，产生了长度为2230氨基酸的截短蛋白，而非野生型无PEST区域的2318个氨基酸。这种变异在一名患有侧方脑膜囊肿综合症的患者中被发现。(来源：J:270682)
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
