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Research article

First published 2019

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

Ying Hu, Payam Mohassel, Sandra Donkervoort [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2018-12

Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation in USH2A

Ralph Slijkerman, Alexander Goloborodko, Sanne Broekman [...]

Zebrafish

Open access

Research article

First published 2018

Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis

Xingzhu Geng, Yanshan Liu, XiuZhi Ren [...]

Molecular Pain

Open access

Review article

First published 2020

Pseudoexons of the DMD Gene

Niall P. Keegan

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2021-03

Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?

Louis Januel, Valérie Chanavat, Pierre-Antoine Rollat-Farnier [...]

DNA and Cell Biology

Retricted access

Research article

First published 2023-09

Two Novel Frameshift Mutations in the GLI3 Gene Underlie Non-Syndromic Polydactyly in Chinese Families

Xiaoyan Guo, Tengfei Shi, Mingrui Lin [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2024-7

An effective deep learning-based approach for splice site identification in gene expression

Mohsin Ali, Dilawar Shah, Shahid Qazi [...]

Science Progress

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Research article

First published 2011-12

Population Mutation Scanning of Human GHR by meltMADGE and Identification of a Paucimorphic Variant

Khalid K. Alharbi, Guangwei Hou, Xiao-he Chen [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2013-07

Gene Correction of a Duchenne Muscular Dystrophy Mutation by Meganuclease-Enhanced Exon Knock-In

Linda Popplewell, Taeyoung Koo, Xavier Leclerc [...]

Human Gene Therapy

Retricted access

Research article

First published 2019-09

In Vivo Exon Replacement in the Mouse Atp7b Gene by the Cas9 System

Lili Liu, Jianchang Cao, Qiurong Chang [...]

Human Gene Therapy

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