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Identification of human haploinsufficient genes and their genomic proximity to segmental duplication...

Identification of human haploinsufficient genes and their genomic proximity to segmental duplication...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69696475

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

About this item

Full title

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

Publisher

Cham: Springer International Publishing

Journal title

European journal of human genetics : EJHG, 2008-11, Vol.16 (11), p.1350-1357

Language

English

Formats

Publication information

Publisher

Cham: Springer International Publishing

More information

Scope and Contents

Contents

Despite the significance of haploinsufficiency in human disease, no systematic study has been reported into the types of genes that are haploinsufficient in human, or into the mechanisms that commonly lead to their deletion and to the expression of the haploinsufficient phenotype. We have applied a rigorous text-searching and database-mining strate...

Alternative Titles

Full title

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_69696475

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69696475

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2008.111

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