Log In|Sign Up
EN
CRISPR/Cas9 technology generated a tyrosine to cysteine substitution at amino acid 392 (p.Y392C). This is a pathogenic variant identified in children with Zaki syndrome consisting of multiorgan defects, microcephaly and facial dysmorphism. (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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
