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Glutamic acid codon 348 through proline codon 353 in exon 4 were deleted (c.1042_1059del, p.E348_P353delEDTSQP) using an sgRNA and an ssODN template with CRISPR/cas9 technology. The mutation is in the T-box and includes five human TBR1 variants identified as pathogenic or likely pathogenic. (J:339271)
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
