PMC Links for Gene (Select 499749) - PMC - NCBI

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Items: 6

Select item 28333911.

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

Atteeq Ur Rehman, Robert J. Morell, Inna A. Belyantseva, Shahid Y. Khan, Erich T. Boger, Mohsin Shahzad, Zubair M. Ahmed, Saima Riazuddin, Shaheen N. Khan, Sheikh Riazuddin, Thomas B. Friedman

Am J Hum Genet. 2010 Mar 12; 86(3): 378–388. doi: 10.1016/j.ajhg.2010.01.030

PMCID:: PMC2833391

Abstract Article PDF–1.2M

Select item 28333762.

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders, Gudrun Nürnberg, Majida Charif, Ronald J.C. Admiraal, Simon von Ameln, Ingelore Baessmann, Mostafa Kandil, Joris A. Veltman, Peter Nürnberg, Christian Kubisch, Abdelhamid Barakat, Hannie Kremer, Bernd Wollnik

Am J Hum Genet. 2010 Mar 12; 86(3): 479–484. doi: 10.1016/j.ajhg.2010.02.003

PMCID:: PMC2833376

Abstract Article PDF–730K

Select item 63177153.

GRXCR2 Regulates Taperin Localization Critical for Stereocilia Morphology and Hearing

Chang Liu, Na Luo, Chun-Yu Tung, Benjamin J. Perrin, Bo Zhao

Cell Rep. Author manuscript; available in PMC 2019 Jan 3.

Published in final edited form as: Cell Rep. 2018 Oct 30; 25(5): 1268–1280.e4. doi: 10.1016/j.celrep.2018.09.063

PMCID:: PMC6317715

Abstract Article PDF–1.8M

Select item 48989304.

Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function

Bo Zhao, Zizhen Wu, Ulrich Müller

eLife. 2016; 5: e14222. Published online 2016 Jun 8. doi: 10.7554/eLife.14222

PMCID:: PMC4898930

Abstract Article PDF–8.6M

Select item 1392415.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 31780596.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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