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中文
CRISPR/Cas9技术被用来在位置c.2714进行C到T的替换，导致Proline变为Leucine，即p.P905L的氨基酸替换。这与已知在两例婴儿期癫痫伴移行性局灶发作（即发展性及癫痫性脑病14型）患者中发现的p.P924L病变相似(来源：J:333512)。
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
