Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
about
Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogenePhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.ABCMdb reloaded: updates on mutations in ATP binding cassette proteins.Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategyPatient-controlled encrypted genomic data: an approach to advance clinical genomics.Understanding the population structure of North American patients with cystic fibrosisDevelopment and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.A formal perturbation equation between genotype and phenotype determines the Evolutionary Action of protein-coding variations on fitness.Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic FibrosisComparison of predicted and actual consequences of missense mutations.CFTR, mucins, and mucus obstruction in cystic fibrosis.BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.A Molecular Evolutionary Reference for the Human VariomeDefining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series.Challenges of multiple mutations in individual patients with haemophilia.Insights into the genetic foundations of human communication.Computational Approach to Annotating Variants of Unknown Significance in Clinical Next Generation Sequencing.Integration of structural dynamics and molecular evolution via protein interaction networks: a new era in genomic medicine.The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.Bias in CFTR screening panels.Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency.Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Settling the score: variant prioritization and Mendelian disease.p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing.
P2860
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P2860
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Do common in silico tools pred ...... ubstitutions in the CFTR gene?
@ast
Do common in silico tools pred ...... ubstitutions in the CFTR gene?
@en
type
label
Do common in silico tools pred ...... ubstitutions in the CFTR gene?
@ast
Do common in silico tools pred ...... ubstitutions in the CFTR gene?
@en
prefLabel
Do common in silico tools pred ...... ubstitutions in the CFTR gene?
@ast
Do common in silico tools pred ...... ubstitutions in the CFTR gene?
@en
P2093
P1433
P1476
Do common in silico tools pred ...... ubstitutions in the CFTR gene?
@en
P2093
J Zielenski
T Nalpathamkalam
P304
P356
10.1111/J.1399-0004.2009.01351.X
P577
2009-01-06T00:00:00Z