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CRISPR/cas9 genome editing is used to select Guide RNA [CATCCTGCGCATCCTGAAGT] and donor DNA to insert an R312H point mutation (arginine to histidine, NM_004975.2:c.935G to A). THe R312H variant has been identified in children with developmental and epileptic ecephalopathies (DEEs). (J:331047)
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
