Characterising and Predicting Haploinsufficiency in the Human Genome

Haploinsufficiency, wherein a single functional copy of a gene is insufficient to maintain normal function, is a major cause of dominant disease. Human disease studies have identified several hundred haploinsufficient (HI) genes. We have compiled a map of 1,079 haplosufficient (HS) genes by systemat...

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Detalles Bibliográficos
Autores principales: Huang, Ni, Lee, Insuk, Marcotte, Edward M., Hurles, Matthew E.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954820/
https://www.ncbi.nlm.nih.gov/pubmed/20976243
http://dx.doi.org/10.1371/journal.pgen.1001154

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954820/
https://www.ncbi.nlm.nih.gov/pubmed/20976243
http://dx.doi.org/10.1371/journal.pgen.1001154

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