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 |
SLC25A13 | 603859 | 605814 | 7q21.3 | c.1638_1660dup23 | 0003 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET | 2 |
SLC25A13 | 603859 | 605814 | 7q21.3 | c.615+5g>a | | CITRULLINEMIA, TYPE II, NEONATAL-ONSET | 1 |
SLC25A13 | 603859 | 605814 | 7q21.3 | c.851_854del | 0001 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET | 1 |
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