ロード中...

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...

詳細記述

保存先:
書誌詳細
出版年:Life (Basel)
主要な著者: Bergant, Gaber, Maver, Aleš, Peterlin, Borut
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2021
主題:
オンライン・アクセス: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
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!