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NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa

The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE(®)) was established in an effort to facilitate basic and clinical research of human inherited eye disease. In order to provide high quality genetic testing to eyeGENE(®)’s enrolled patients which potentially aids clinical di...

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Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Ge, Zhongqi, Bowles, Kristen, Goetz, Kerry, Scholl, Hendrik P. N., Wang, Feng, Wang, Xinjing, Xu, Shan, Wang, Keqing, Wang, Hui, Chen, Rui
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2015
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4678898/
https://ncbi.nlm.nih.gov/pubmed/26667666
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep18287
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