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中文
CRISPR/Cas9技术产生了一个酪氨酸到 cysteine 的替换，位于第478位氨基酸（p.Y478C）。这是一种在Zaki综合症（表现为多器官缺陷、小头症和面部畸形）中发现的致病变异（来源：J:341542）。
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
