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Targeted next-generation sequencing identifies a homozygous nonsense mutation inABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

✍ Scribed by Tobias Eisenberger, Rima Slim, Ahmad Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann, Hanno Jörn Bolz


Book ID
119911444
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
595 KB
Volume
7
Category
Article
ISSN
1750-1172

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