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Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism

Genetic sequencing has become a critical part of the diagnosis of certain forms of pancreatic beta cell dysfunction. Despite great advances in the speed and cost of DNA sequencing, determining the pathogenicity of variants remains a challenge, and requires sharing of sequence and phenotypic data bet...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Bennett, James T., Vasta, Valeria, Zhang, Min, Narayanan, Jaya, Gerrits, Peter, Hahn, Si Houn
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7852340/
https://ncbi.nlm.nih.gov/pubmed/25555642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.12.304
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