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Gene Mutations
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| Records Return:
(3)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| LIG4 | 601837 | 606593 | 13q22-q34 | ARG278HIS | 0004 | LIG4 SYNDROME | 1 |
| LIG4 | 601837 | 606593 | 13q22-q34 | ARG814TER | 0002 | LIG4 SYNDROME | 1 |
| LIG4 | 601837 | 606593 | 13q22-q34 | GLY469GLU | 0003 | LIG4 SYNDROME | 1 |
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