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Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Puffenberger, Erik G., Jinks, Robert N., Sougnez, Carrie, Cibulskis, Kristian, Willert, Rebecca A., Achilly, Nathan P., Cassidy, Ryan P., Fiorentini, Christopher J., Heiken, Kory F., Lawrence, Johnny J., Mahoney, Molly H., Miller, Christopher J., Nair, Devika T., Politi, Kristin A., Worcester, Kimberly N., Setton, Roni A., DiPiazza, Rosa, Sherman, Eric A., Eastman, James T., Francklyn, Christopher, Robey-Bond, Susan, Rider, Nicholas L., Gabriel, Stacey, Morton, D. Holmes, Strauss, Kevin A.·2012·PLoS ONE
DOI 10.1371/journal.pone.0028936PMC PMC3260153
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Metadata

Authors
Puffenberger, E. G., Jinks, R. N., Sougnez, C., Cibulskis, K., Willert, R. A., Achilly, N. P., Cassidy, R. P., Fiorentini, C. J., Heiken, K. F., Lawrence, J. J., Mahoney, M. H., Miller, C. J., Nair, D. T., Politi, K. A., Worcester, K. N., Setton, R. A., DiPiazza, R., Sherman, E. A., Eastman, J. T., Francklyn, C., Robey-Bond, S., Rider, N. L., Gabriel, S., Morton, D. H., & Strauss, K. A.
Venue
PLoS ONE
Publisher
Public Library of Science (PLoS)
Published
2012-01-17
Volume
7
Issue
1
Pages
e28936
ISSN
1932-6203
DOI
10.1371/journal.pone.0028936
PMC
PMC3260153
Cited by
286
References
3
Language
en
Licence
creativecommons.org/licenses/by/4.0/ (unspecified)

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