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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 |
| LIG1 | 126391 | 126391 | 19q13.2-q13.3 | ARG771TRP | 0002 | DNA LIGASE I DEFICIENCY | 2 |
| LIG1 | 126391 | 126391 | 19q13.2-q13.3 | GLU566LYS | 0001 | DNA LIGASE I DEFICIENCY | 2 |
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