Results 181 to 190 of about 314 (196)

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

Genes, 2021
Sylvain Hanein, Mohammed Zarhrate, Jean-Michel Rozet   +2 more
exaly  

The significance of deep intronic variants of the GLA gene as determinants of Fabry disease

2022
Fabry disease is one of the rare X-linked recessive storage diseases, where numerous pathogenic variants in the GLA gene reduce or completely abolish the activity of the enzyme alpha-Galactosidase A, which can have dire consequences for the patients. The patients are diagnosed by biochemical analysis of enzyme activity and by measurement of substrate ...
openaire   +1 more source

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia

Frontiers in Genetics, 2022
Tatiana Maroilley, Maja Tarailo-Graovac, Gerald Pfeffer   +2 more
exaly  

Deep intronic variants as a cause of OTC deficiency

Molecular Genetics and Metabolism
Shawn McCandless, Nicole M. Garcia Tubéns, Uyen Ly, Sujatha Jagannathan, Tamim Shaikh, Curtis Coughlin   +5 more
openaire   +1 more source

An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation

Neurogenetics, 2022
Mitsuko Nakashima, Shinobu Fukumura, Hirotomo Saitsu   +2 more
exaly  

Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A

Human Mutation, 2021
Shalini S Nayak, Girisha Km, Andrea Superti-Furga   +2 more
exaly  

Diving deep: Finding pathogenic intronic variants and making them actionable

Journal of Hepatology
Benedikt Schaefer, Heinz Zoller
openaire   +2 more sources

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Frontiers in Genetics, 2023
Olivera Casar-Borota, Anne-Marie Landtblom, Shala Ghaderi Berntsson   +2 more
exaly  

The A209= Synonymous CFTR Variant Conceals Deep Intronic Variant: Disclosing its Phenotypic Spectrum

Archivos de Bronconeumología
Francisco, Martinez Bugallo, Gema, García de la Rosa, Carol, Prieto-Morín, Orlando, Mesa-Medina, Alicia, Callejón-Callejón   +4 more
openaire   +2 more sources

No Evidence for the Pathogenicity of the BRCA2 c.6937 + 594T>G Deep Intronic Variant: A Case-Control Analysis

Genetic Testing and Molecular Biomarkers, 2018
Jaime L Matta, Julie Dutil, Alvaro Monteiro   +2 more
exaly