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Human Gene Mutation Database (HGMD): 2003 update.
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. Stenson PD, et al. Among authors: phillips ad. Hum Mutat. 2003 Jun;21(6):577-81. doi: 10.1002/humu.10212. Hum Mutat. 2003. PMID: 12754702
The Human Gene Mutation Database: 2008 update.
Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. Stenson PD, et al. Among authors: phillips ad. Genome Med. 2009 Jan 22;1(1):13. doi: 10.1186/gm13. Genome Med. 2009. PMID: 19348700 Free PMC article.
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN. Stenson PD, et al. Among authors: phillips ad. Hum Genet. 2017 Jun;136(6):665-677. doi: 10.1007/s00439-017-1779-6. Epub 2017 Mar 27. Hum Genet. 2017. PMID: 28349240 Free PMC article. Review.
207 results