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中文
设计的引导RNA( CGCAGATGTCCGCCCCGACC 和 GCAGATGTCCGCCCCGACCA)旨在产生位置1935上的GAC到GAA突变，导致氨基酸645(Asp645)由天冬氨酸替换为谷氨酸。这种变异在台湾和华南汉族人群中被确认为最常见的致病性GAA突变，导致婴儿期的庞佩病(IOPD)。引入了沉默的protospacer相邻 motif(PAM)位点变异( Gaa(c.1920C到T))和gRNA种子区域变异( Gaa(c.1923G到C))，同时还有两个无声变异( Gaa(c.1929G到A)和 Gaa(c.1932G到A))，以防止gRNA对供体模板的编辑。(来源：J:341582)
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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References Literature
Title
PMID
Journal
Year
IF
