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1990 | 1 |
2015 | 1 |
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The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).
N Engl J Med. 1990 Nov 29;323(22):1517-22. doi: 10.1056/NEJM199011293232203.
N Engl J Med. 1990.
PMID: 2233932
Free article.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.
Richards S, et al.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
Genet Med. 2015.
PMID: 25741868
Free PMC article.
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