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中文
Exon 4被修改，加入了2个碱基对的缺失，位于转录激活域（E168d2），与早发型、严重性状的伴性显性cone-rod dystrophy（adCoRD）和Leber Congenital Amaurosis（adLCA）关联。这个变异导致了框架移位和预期产物的过早截断。(来源：J:211011)
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
