Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population

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The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2014

The Interlaboratory RObustness of Next-generation sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories.

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New clinical diagnostic procedures for cystic fibrosis in Europe.

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

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2011

Parkinson's disease-associated LRRK2 risk variant, G2385R, enhances Rab substrate phosphorylation and impairs neuronal integrity.

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Pleiotropy and eQTL analysis identify shared genetic architecture of lipid traits in African-ancestry populations.

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Multidisciplinary pathogenicity assessment of congenital hypothyroidism-associated SLC5A5 gene variants.

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Molecular basis of mucopolysaccharidosis IVA in a large cohort: genotype-phenotype correlations and reporting of 12 novel GALNS variants.

Human molecular genetics·2026

Shared genetic architecture of schizophrenia and lupus identifies pleiotropic loci with distinct downstream mechanisms.

Human molecular genetics·2026

Motor dysfunction phenotypes in a drosophila model validate DAO as an ALS gene.

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A validated UV spectrophotometric method for simultaneous determination of ascorbic acid and resveratrol using isosbestic point approach.

Acta chimica Slovenica·2026

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Analytical biochemistry·2026

A robust ensemble chemometric strategy for near-infrared determination of ash content in fishmeal.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2026

Novel anatomical mapping of the anterior branch of the axillary nerve across the anterior and middle part of the deltoid: a fresh-cadaver study defining safe zones.

Surgical and radiologic anatomy : SRA·2026

OM-sqPCR enables one-step multiplex quantification of circulating small-RNA subclasses for colorectal cancer classification.

iScience·2026

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Iranian journal of medical sciences·2026

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Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian

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Related Experiment Videos

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian...

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Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian