The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

The Human Gene Mutation Database (HGMD(®)) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene le...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Stenson, Peter D., Mort, Matthew, Ball, Edward V., Evans, Katy, Hayden, Matthew, Heywood, Sally, Hussain, Michelle, Phillips, Andrew D., Cooper, David N.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2017
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5429360/
https://ncbi.nlm.nih.gov/pubmed/28349240
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-017-1779-6
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados