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| Prepair 500+ v0.0 | POR |
Seb Lunke gene: POR was added gene: POR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) |
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| Prepair 500+ v0.0 | COL4A5 |
Seb Lunke gene: COL4A5 was added gene: COL4A5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked |
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| Prepair 500+ v0.0 | COL4A4 |
Seb Lunke gene: COL4A4 was added gene: COL4A4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to Alport syndrome, autosomal recessive, 203780 (3) |
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| Prepair 500+ v0.0 | COL4A3 |
Seb Lunke gene: COL4A3 was added gene: COL4A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780 (3) |
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