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An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.
Hum Mutat. 2013 Dec;34(12):1597-605. doi: 10.1002/humu.22440. Epub 2013 Oct 16.
Hum Mutat. 2013.
PMID: 24014347
Review.
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA.
van den Akker PC, et al. Among authors: rengaw t.
Hum Mutat. 2011 Oct;32(10):1100-7. doi: 10.1002/humu.21551. Epub 2011 Sep 9.
Hum Mutat. 2011.
PMID: 21681854
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Consensus and conflict cards for metabolic pathway databases.
Stobbe MD, Swertz MA, Thiele I, Rengaw T, van Kampen AH, Moerland PD.
Stobbe MD, et al. Among authors: rengaw t.
BMC Syst Biol. 2013 Jun 26;7:50. doi: 10.1186/1752-0509-7-50.
BMC Syst Biol. 2013.
PMID: 23803311
Free PMC article.
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