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2012 | 1 |
2013 | 1 |
2018 | 1 |
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Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Brain Sci. 2018 Aug 7;8(8):145. doi: 10.3390/brainsci8080145.
Brain Sci. 2018.
PMID: 30087272
Free PMC article.
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.
Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, Macdonald MJ, Nas V, Fry AE, Berger W.
Kloeckener-Gruissem B, et al. Among authors: palmer smith sm.
Eur J Hum Genet. 2013 Mar;21(3):352-6. doi: 10.1038/ejhg.2012.137. Epub 2012 Jun 27.
Eur J Hum Genet. 2013.
PMID: 22739342
Free PMC article.
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