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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Abstract:

We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories. A total of 1,941 unique genetic variants in 37 genes, encoding globins and other erythroid proteins, are currently documented in these databases, with reciprocal attribution of microcitations to ...

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Publisher copy:
10.1038/ng.785

Authors


Giardine, B More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Molecular Medicine, Biomedical Research Centre
Peterson, KR More by this author
Philipsen, S More by this author
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Journal:
Nature Genetics
Volume:
43
Issue:
4
Pages:
295-302
Publication date:
2011-02-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:6d7e64b9-95d0-4a22-81d4-74231b8c67fb
Source identifiers:
135226
Local pid:
pubs:135226
Language:
English

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