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中文
CRISPR/Cas9技术产生了一个C到T的变异(g.118123372C>T)，导致第1034位的arginine被 cysteine替换(等位基因p.R1034C)。在先天性青光眼受累家庭中，已识别到影响p.R1034的错义突变等位基因。(来源：J:338944)
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
