Results 171 to 180 of about 537,790 (185)

Hereditary angioedema caused by a novel intronic variant of SERPING1

Pediatric Allergy and Immunology, 2021
Rocío López‐Martínez, Jesús Martínez‐Borra, Porfirio Fernández‐González, Eliecer Coto, Paula Toyos‐González   +4 more
openaire   +2 more sources

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease

Molecular Genetics & Genomic Medicine, 2020
Corinne Collet, Aurelia Poujois, Jean-Louis Laplanche   +2 more
exaly  

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  

Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants

Genes, 2022
William David Foulkes, Wejdan M Alenezi, Anne-Marie Mes-Masson   +2 more
exaly  

Assessing the clinical significance of PRSS1 intronic variants

Pancreatology, 2019
Eszter Hegyi, Anna Zsófia Tóth, Andrea Szentesi, Gyula Farkas, Ferenc Izbéki, Bálint Erőss, László Czakó, Áron Vincze, Péter Hegyi, Miklós Sahin-Tóth   +9 more
openaire   +1 more source

Structural Variants at the Anchors of Intron-Intron CTCF Loops Drive Transcriptional Change

2025 Women in Bioinformatics Workshop (WIBI)
Sabriya Syed, Nicholas Moskwa, Charles Lee   +2 more
openaire   +1 more source

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

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics, Part A
Nishitha R Pillai
exaly  

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition

Breast
Petra Kleiblova, Katerina Matejkova, Milena Hovhannisyan   +2 more
exaly  

Novel intronic variant in gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings

Mitochondrion
Päivi Vieira, Salla M Kangas, Maria Suo-Palosaari   +2 more
exaly