cftr2 | Welcome to CFTR2

Keyword	CPC	PCC	Volume	Score	Length of keyword
cftr2	0.52	0.2	8871	86	5

Keyword	CPC	PCC	Volume	Score
cftr2	1.75	0.5	3709	92
cftr2 database	1.34	0.7	9410	18
cftr2 website	0.55	0.2	5634	71
cftr france	0.64	0.3	7774	6
cftr26w	0.73	0.6	5421	94
cftr26w/gx24q	0.4	0.7	2111	74
cftr2 mutation database	1.27	0.9	4283	79
cftr26w/gx24q/841	0.4	0.4	1702	60

Search Results related to cftr2 on Search Engine

Welcome to CFTR2 | CFTR2
cftr2.org

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:

DA: 52 PA: 51 MOZ Rank: 45

The genetics and genomics of cystic fibrosis - PMC
nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008819/

WEBAs of July 2019, a total of 412 variants have been interpreted and posted to the CFTR2 website (https://cftr2.org/). Since CFTR variants have been associated with a spectrum of conditions ranging from classic CF to ‘monosymptomatic’ conditions, it is essential that specific and reliable clinical metrics be used for the differential ...

DA: 15 PA: 44 MOZ Rank: 41

CFTR variant testing: a technical standard of the American College …
nih.gov

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.

DA: 64 PA: 67 MOZ Rank: 20

CFTR variant testing: a technical standard of the American
nature.com

https://www.nature.com/articles/s41436-020-0822-5

WEBMay 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.

DA: 29 PA: 18 MOZ Rank: 9

Find Out More About Your Mutations - Cystic Fibrosis Foundation
cff.org

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.

DA: 31 PA: 43 MOZ Rank: 28

CFTR2: How will it help care? - PubMed
nih.gov

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 …

DA: 66 PA: 80 MOZ Rank: 57

Defining the disease liability of variants in the cystic fibrosis
nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874936/

WEBAbstract. Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation to clinical practice. Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator ( CFTR) gene have empirical evidence that they cause cystic fibrosis.

DA: 75 PA: 91 MOZ Rank: 93

CFTR2: How will it help care? — Johns Hopkins University
johnshopkins.edu

https://pure.johnshopkins.edu/en/publications/cftr2-how-will-it-help-care-3

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 and large clinics.

DA: 25 PA: 4 MOZ Rank: 32

CFTR2: How will it help care? - ScienceDirect
sciencedirect.com

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.

DA: 30 PA: 100 MOZ Rank: 5

Complete CFTR gene sequencing in 5,058 individuals with cystic
nih.gov

https://pubmed.ncbi.nlm.nih.gov/34782259/

WEBPMID: 34782259. DOI: 10.1016/j.jcf.2021.10.011. Abstract. Background: Cystic fibrosis (CF) is a recessive condition caused by variants in each CF transmembrane conductance regulator (CFTR) allele.

DA: 15 PA: 57 MOZ Rank: 96