Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length.

about

Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length.

Item

http://www.wikidata.org/entity/Q39571511

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

Phenotypes of California CF Ne ...... 5T Allele by TG Repeat Length.

@en

Phenotypes of California CF Ne ...... 5T Allele by TG Repeat Length.

@nl

type

Item

label

Phenotypes of California CF Ne ...... 5T Allele by TG Repeat Length.

@en

Phenotypes of California CF Ne ...... 5T Allele by TG Repeat Length.

@nl

prefLabel

Phenotypes of California CF Ne ...... 5T Allele by TG Repeat Length.

@en

Phenotypes of California CF Ne ...... 5T Allele by TG Repeat Length.

@nl

P1476

Phenotypes of California CF Ne ...... 5T Allele by TG Repeat Length.

@en

P2093

Colleen Azen

http://www.w3.org/2001/XMLSchema#string

Danieli Barino Salinas

http://www.w3.org/2001/XMLSchema#string

Martin Kharrazi

http://www.w3.org/2001/XMLSchema#string

Richard B Parad

http://www.w3.org/2001/XMLSchema#string

Suzanne Young

http://www.w3.org/2001/XMLSchema#string

Thomas G Keens

http://www.w3.org/2001/XMLSchema#string

P2860

Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.

A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.

Modifier genes in Mendelian disorders: the example of cystic fibrosis

Chronic Pseudomonas aeruginosa infection definition: EuroCareCF Working Group report.

Recommendations for the classification of diseases as CFTR-related disorders.

P304

496-503

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1089/GTMB.2016.0102

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2016-07-22T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27447098

http://www.w3.org/2001/XMLSchema#string

P921

California

P932

5395019

http://www.w3.org/2001/XMLSchema#string