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Welcome to CFTR2 | CFTR2
http://cftr2.org/
WEBApr 7, 2023 · CFTR2 is a website that provides information for patients, researchers, and the general public about specific variants in what is commonly referred to as the cystic fibrosis (CF) gene. For each variant or variant combination included in the database, the website will provide information about:
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Find Out More About Your Mutations - Cystic Fibrosis Foundation
https://www.cff.org/intro-cf/find-out-more-about-your-mutations
WEBThe database can be found on the website CFTR2, which stands for the Clinical and Functional Translation of CFTR. This growing database has information from nearly 90,000 people with CF, collected by CF patient registries and care centers around the world. Using the CFTR2 Website.
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CFTR variant testing: a technical standard of the American …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268680/
WEBAnnotation of CFTR variants by the CFTR2 team is performed using a three-level approach: clinical criteria, functional assessment, and penetrance analysis. Once variants have been assessed, results are uploaded to the CFTR2 website (CFTR2.org) so that interpretations are immediately available to the public.
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The genetics and genomics of cystic fibrosis - PMC
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008819/
WEBAs of 2019, 2065 variants in the CFTR gene have been inventoried by the CFMD. These variants have a plethora of effects upon gene function ( Fig. 1 ). Nearly 40% of the reported missense variants are predicted to alter a single amino acid and should therefore allow CFTR protein to be synthesized, although it may be misfolded and/or dysfunctional.
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CFTR variant testing: a technical standard of the American
https://www.nature.com/articles/s41436-020-0822-5
WEBMay 14, 2020 · Pathogenic variants in this gene are causative of classic cystic fibrosis (CF) as well as nonclassic CF phenotypes, including isolated congenital absence of the vas deferens (CAVD). 1, 2, 3...
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Updated recommendations for - Genetics in Medicine
https://www.gimjournal.org/article/S1098-3600(23)00880-8/fulltext
WEBJun 13, 2023 · CFTR2 classifies variants as either CF-causing, VVCCs, non-CF causing, or variants of unknown significance. CFTR2 defines VVCCs as those variants that are associated with CF in some individuals but not in others when the variant is present in trans with a CF-causing variant (note that this is a slightly different definition than the one used ...
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CFTR2: How will it help care? - ScienceDirect
https://www.sciencedirect.com/science/article/pii/S1526054213000080
WEBMay 1, 2013 · The Clinical and Functional Translation of CFTR (CFTR2) project presents a novel approach to clinical and functional annotation of mutations identified in disease-causing genes. Phenotype and genotype information on approximately 40,000 cystic fibrosis (CF) patients were collected from registries and large clinics.
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CFTR modulator therapy: transforming the landscape of …
https://www.thelancet.com/pdfs/journals/lancet/PIIS0140-6736(23)01609-4.pdf
WEBMore than 2100 variants have been identified in the CFTR gene and reported to the Cystic Fibrosis Mutation Database, approximately 700 of which have been recorded in the CFTR2 database to cause the CFTR protein dysfunction that characterises cystic fibrosis (ie, absent or reduced anion transport at epithelial cell surfaces).
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CFTR2: How will it help care? - PubMed
https://pubmed.ncbi.nlm.nih.gov/23466340/
WEBThe Clinical and Functional Translation of CFTR (CFTR2) project presents a novel approach to clinical and functional annotation of mutations identified in disease-causing genes. Phenotype and genotype information on approximately 40,000 cystic fibrosis (CF) patients were collected from registries an …
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Updated recommendations for CFTR carrier screening: A position
https://www.sciencedirect.com/science/article/pii/S1098360023008808
WEBAug 1, 2023 · CFTR2 classifies variants as either CF-causing, VVCCs, non-CF causing, or variants of unknown significance. CFTR2 defines VVCCs as those variants that are associated with CF in some individuals but not in others when the variant is present in trans with a CF-causing variant (note that this is a slightly different definition than the one used ...
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