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CRISPR/Cas9 technology generated a G to A change at position 1080 (corresponds to c.1079G>A on GRC39) resulting in a cysteine to tyrosine substitution at amino acid 360 (p.C360Y) in exon 11. This mutation cosegregates with gnathodiaphyseal dysplasia in a Han-Chinese family. (J:336715)
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
