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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1989 | 1 |
2004 | 1 |
2013 | 1 |
2017 | 1 |
2024 | 0 |
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4 results
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Page 1
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
Genet Med. 2004 Sep-Oct;6(5):387-91. doi: 10.1097/01.gim.0000139506.11694.7c.
Genet Med. 2004.
PMID: 15371902
Free PMC article.
No abstract available.
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al.
Riordan JR, et al.
Science. 1989 Sep 8;245(4922):1066-73. doi: 10.1126/science.2475911.
Science. 1989.
PMID: 2475911
Item in Clipboard
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR.
Sosnay PR, et al.
Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25.
Nat Genet. 2013.
PMID: 23974870
Free PMC article.
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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