Carregando...

Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders

Several patients with rare genetic disorders remain undiagnosed following comprehensive diagnostic testing using whole-exome sequencing (WES). In these patients, pathogenic genetic variants may reside in intronic or regulatory regions or they may emerge through mutational mechanisms not detected by...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Life (Basel)
Principais autores: Bergant, Gaber, Maver, Aleš, Peterlin, Borut
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8001615/
https://ncbi.nlm.nih.gov/pubmed/33807868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/life11030205
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!