Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 1 |
2023 | 1 |
2024 | 1 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Page 1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21.
Am J Hum Genet. 2022.
PMID: 36413997
Free PMC article.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S; InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel.
Spier I, et al.
Genet Med. 2024 Feb;26(2):100992. doi: 10.1016/j.gim.2023.100992. Epub 2023 Oct 4.
Genet Med. 2024.
PMID: 37800450
Free article.
Item in Clipboard
Cite
Cite