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Research article

First published 2013-9-9

Intronic rs2147363 Variant in ATP7B Transcription Factor-Binding Site Associated with Alzheimer's Disease

Serena Bucossi, Renato Polimanti, Mariacarla Ventriglia [...]

Journal of Alzheimer’s Disease

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Other

First published 2025-01

Uncovering ASO-Targetable Deep Intronic AIRE Variants: Insights and Therapeutic Implications

Sebastian Ochoa, Michail S. Lionakis

DNA and Cell Biology

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Research article

First published 1998-07

Evolution of U24 and U36 snoRNAs Encoded within Introns of Vertebrate rpL7a Gene Homologs: Unique Features of Mammalian U36 Variants

Jonathan Gilley, Mike Fried

DNA and Cell Biology

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Research article

First published 1995-06

Molecular Cloning and Characterization of the Mouse Dopamine D 3 Receptor Gene: An Additional Intron and an mRNA Variant

Dingyi FU, Boris V. Skryabin, Jurgen Brosius [...]

DNA and Cell Biology

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Research article

First published 2018-02

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

Julie Dutil, Lenin Godoy, Rafael Rivera-Lugo [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2022-10

Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene

Ainhoa Martínez-Pizarro, Fátima Leal, Lise Lolle Holm [...]

Nucleic Acid Therapeutics

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Review article

First published 2020-11

Allele Frequency of ACE2 Intron Variants and Its Association with Blood Pressure

Karla Lozano-Gonzalez, Elba Padilla-Rodríguez, Tomas Texis [...]

DNA and Cell Biology

Open access

Case report

First published 2021

A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia

Erin Finn, Kimberly Kripps, Christina Chambers [...]

Journal of Investigative Medicine High Impact Case Reports

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Research article

First published 2023-2

Interferon-gamma (IFN-γ) intronic variant (rs2430561) is a risk factor for systemic lupus erythematosus: Observation from a meta-analysis

Surjyapratap Sarangi, Suraj K Nahak, Sunali Padhi [...]

Lupus

Free access

Research article

First published 2022-4

An independent,replicable,functional and significant risk variant block at intron 3 of CACNA1C for schizophrenia

Zuxing Wang, Wenzhong Chen, Yuping Cao [...]

Australian & New Zealand Journal of Psychiatry

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