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Items: 3

1.
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice
Malte Spielmann, Naseebullah Kakar, Naeimeh Tayebi, Catherine Leettola, Gudrun Nürnberg, Nadine Sowada, Darío G. Lupiáñez, Izabela Harabula, Ricarda Flöttmann, Denise Horn, Wing Lee Chan, Lars Wittler, Rüstem Yilmaz, Janine Altmüller, Holger Thiele, Hans van Bokhoven, Charles E. Schwartz, Peter Nürnberg, James U. Bowie, Jamil Ahmad, Christian Kubisch, Stefan Mundlos, Guntram Borck
Genome Res. 2016 Feb; 26(2): 183–191. doi: 10.1101/gr.199430.115
PMCID:
PMC4728371
AbstractArticlePDF–1.0M
2.
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
AbstractArticlePDF–1.0M
3.
The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species.
R M Zwacka, A Reuter, E Pfaff, J Moll, K Gorgas, M Karasawa, H Weiher
EMBO J. 1994 Nov 1; 13(21): 5129–5134. doi: 10.1002/j.1460-2075.1994.tb06842.x
PMCID:
PMC395460
SummaryPage BrowsePDF–1.8M

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