WeChat Mini Program
Old Version Features

Next-generation Sequencing Reveals the Mutational Landscape of Clinically Diagnosed Usher Syndrome: Copy Number Variations, Phenocopies, a Predominant Target for Translational Read-Through, and PEX26 Mutated in Heimler Syndrome.

Christine Neuhaus,Tobias Eisenberger,Christian Decker,Sandra Nagl, Cornelia Blank,Markus Pfister,Ingo Kennerknecht, Cornelie Mueller-Hofstede,Peter Charbel Issa,Raoul Heller,Bodo Beck,Klaus Ruether,Diana Mitter,Klaus Rohrschneider, Ute Steinhauer, Heike M. Korbmacher,Dagmar Huhle,Solaf M. Elsayed,Hesham M. Taha,Shahid M. Baig,Heidi Stoehr,Markus Preising, Susanne Markus,Fabian Moeller,Birgit Lorenz,Kerstin Nagel-Wolfrum,Arif O. Khan,Hanno J. Bolz

Molecular Genetics & Genomic Medicine（2017）

Cited 62|Views49
Key words
Copy number variation,Heimler syndrome,next-generation sequencing,phenocopies,translational read-through,Usher syndrome
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined