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Gene Mutations
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| Records Return:
(2)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| CDKL5 | 300203 | 300672 | Xp22 | DEL EX 17-18 | | | 1 |
| CDKL5 | 300203 | 300672 | Xp22 | SER557TER | | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2 | 1 |
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