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Welcome to CFTR2 | CFTR2
http://cftr2.org/
Web ResultApr 7, 2023 · Our Purpose: 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: 1.
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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
Web ResultThe 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/
Web ResultCFTR2 . The Clinical and Functional Translation of CFTR (CFTR2) project was initiated in 2008 to expand the clinical annotation of CFTR variants beyond the original ACMG-23 variant panel.
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The genetics and genomics of cystic fibrosis - PMC
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008819/
Web ResultThe nearly 90,000 individuals recruited by the CFTR2 project world-wide carry 1640 different CFTR variants. Most of these variants are rare, occurring in only one or a few individuals. However, ~520 occur in three or more individuals worldwide of which 159 achieve a frequency greater than 0.01% among individuals enrolled in CFTR2.
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CFTR variant testing: a technical standard of the American
https://www.nature.com/articles/s41436-020-0822-5
Web ResultMay 14, 2020 · cftr2 The Clinical and Functional Translation of CFTR (CFTR2) project was initiated in 2008 to expand the clinical annotation of CFTR variants beyond the original ACMG-23 variant panel.
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CFTR2: How will it help care? - PubMed
https://pubmed.ncbi.nlm.nih.gov/23466340/
Web ResultThe 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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CFTR2: How will it help care? - ScienceDirect
https://www.sciencedirect.com/science/article/pii/S1526054213000080
Web ResultMay 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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CFTR2: How will it help care? — Johns Hopkins University
https://pure.johnshopkins.edu/en/publications/cftr2-how-will-it-help-care-3
Web ResultThe 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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Novel, rare and common pathogenic variants in the CFTR gene …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470152/
Web ResultApr 17, 2019 · Cystic fibrosis (CF) is caused by ~300 pathogenic CFTR variants. The heterogeneity of which, challenges molecular diagnosis and precision medicine approaches in CF. Our objective was to identify CFTR variants through high-throughput sequencing (HTS) and to predict the pathogenicity of novel variants …
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Cystic Fibrosis Mutation Database
http://genet.sickkids.on.ca/
Web ResultClinical information in this database relates only to the details of discovery of specific mutations. As part of the 2010 upgrade, CFTR1 joins a new project called CFTR2 - The Clinical and Functional TRanslation of CFTR.
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