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Gene Mutations
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| Records Return:
(1)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| PACS1 | 607492 | 615009 | 11q13.1-q13.2 | c.607C>T p.(R203W) | 0001 | SCHUURS-HOEIJMAKERS SYNDROME; SHMS | 10 |
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