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中文
CRISPR/Cas9技术产生了一个位于第118位的T到A替换（c.118T>A），导致 cysteine 被 serine 替换，位置40的氨基酸从 cysteine 变成了 serine。这个变异在一位患有眼-皮肤白化病的患者中被发现（J:314755）。
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
