A genomic segment of 5.7 kb, containing the first four exons, was deleted using the CRISPR/Cas9 technology with two pairs of sgRNAs. qRT-PCR on brain tissue confirmed the lack of transcripts containing the deleted exons and a 75% decrease in transcription of the downstream exons. (J:256017)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count