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中文
CRISPR/Cas9技术产生了一个C到G的变异，导致第218位氨基酸由苯丙氨酸变为亮氨酸（p.F218L）。这与在巴基斯坦一个金黄舍尔综合症（craniofacial microsomia）家庭中发现的人类p.F234L的有害变异等同。（来源：J:336768）
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
