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| Nephrocalcinosis or nephrolithiasis v6.3 | ABCC6 |
John Sayer gene: ABCC6 was added gene: ABCC6 was added to Nephrocalcinosis or nephrolithiasis. Sources: Other Mode of inheritance for gene: ABCC6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ABCC6 were set to PMID: 41908612; 33820832 Phenotypes for gene: ABCC6 were set to nephrolithiasis; nephrocalcinosis Penetrance for gene: ABCC6 were set to Incomplete Review for gene: ABCC6 was set to GREEN Added comment: ABCC6 causes autosomal recessive pseudoxanthoma elasticum which can include vascular and tissue calcification including kidney Emergin evidence of het carriers with nephrolithiasis and nephrocalcinosis phenotypes. Sources: Other |
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