Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
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| Description | scientific article |
| Author/s |
author: Danielle Perrin Nathalie Pochet Aviv Regev Mitchell Guttman Robert E Handsaker Veronika Barešová Michael C. Zody Elizabeth J Rossin Melissa Parkin Petr Vyletal Carrie Sougnez Brendan Blumenstiel Matthew DeFelice Stacey Gabriel Christine Stevens Jana Sovová Helena Hůlková Eric Lander Snaevar Sigurdsson Ramnik J Xavier Andreas Gnirke Corinne Antignac Kristian Cibulskis Kerstin Lindblad-Toh Mark Joseph Daly Andrew Kirby Chad Nusbaum |
| Publication date | March 2013 |
| Language | English |
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