Caricamento...

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

The Human Gene Mutation Database (HGMD(®)) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutatio...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Stenson, Peter D., Mort, Matthew, Ball, Edward V., Shaw, Katy, Phillips, Andrew D., Cooper, David N.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2013
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3898141/
https://ncbi.nlm.nih.gov/pubmed/24077912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-013-1358-4
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !