The challenge of defining pathogenicity: the example of AHI1
- PMID: 26035799
- DOI: 10.1038/gim.2015.46
The challenge of defining pathogenicity: the example of AHI1
Comment in
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Response to Heller and Bolz.Genet Med. 2015 Jun;17(6):508-9. doi: 10.1038/gim.2015.48. Genet Med. 2015. PMID: 26035800 No abstract available.
Comment on
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Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.Genet Med. 2015 Apr;17(4):271-8. doi: 10.1038/gim.2014.138. Epub 2014 Nov 6. Genet Med. 2015. PMID: 25356976
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