✨
AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
Phenomix as the gold standard in medical genetics applications: three neurogenetic patient samples with full exome analysis
📌 3 Key Takeaways
🎯
Objective & Hypothesis:Phenomix as the gold standard in medical genetics applications: three neurogenetic patient samples with full exome analysis
📊
Key Findings & Data:Phenomix as the gold standard in medical genetics applications: three neurogenetic patient samples with full exome analysis
💡
Conclusion & Impact:Phenomix as the gold standard in medical genetics applications: three neurogenetic patient samples with full exome analysis
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Anahtar Kelimeler Tüm ekzom dizileme analizi · Fenotipleme · Nörogenetik
Abstract
Phenomix as the gold standard in medical genetics applications: three neurogenetic patient samples with full exome analysis
Özet
Tüm ekzom dizileme analizi genetik etiyolojisinde heterojenite gösteren hastalıkların tanısında etkili bir yöntemdir. Ancak, çok sık görülen ve klinik etkisi bilinmeyen varyantların analizi ileri düzeyde klinik yorumlama ve fenotip-genotip korelasyonu gerektirmektedir. Bu sunumda, klinik fenotiplemenin elde edilen veriler ile birlikte değerlendirilmesinin önemini vurgulamak amacıyla, birden fazla kliniğe neden olan gen mutasyonuna sahip 3 olgu sunulmaktadır.
🔖
Cite This Article
BOZDOĞAN, S. T., BOGA, I., BİŞGİN, A. (2021). Phenomix as the gold standard in medical genetics applications: three neurogenetic patient samples with full exome analysis. Cukurova Medical Journal, Cilt: 46 - Sayı: 2, 869–871. https://ajindex.com/articles/206057