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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 |
| ABCC6 | 603234 | 264800 | 16p13.1 | ARG1141TER | 0001 | PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE | 1 |
| ABCC6 | 603234 | 264800 | 16p13.1 | ARG1164TER | 0013 | PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE | 1 |
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