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⚡IMPACT LEVEL 3 — NOTEWORTHY

Epstein File EFTA00315100: Cotton, Durbin and Ben Cline (DS9)

General DocumentOctober 3, 2012EFTA003151008 keyword hits
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This appears to be a scientific research document from Science Translational Medicine dated 3 October 2012. The text discusses genetic research involving medical terminology such as dysmyelination, hair shaft analysis, and genetic insertions. The document mentions researchers like Durbin and Hicks and involves technical genetic sequencing and analysis.

📋 Key Excerpts15

PersonKeyword
Excerpt 1
www.ScienceTranslationalMedicine.org 3 October 2012 Vol 4 Issue 154 154ra135 3 EFTA00315103 RESEARCH ARTICLE dysmyelination, hair shaft analysis revealed pili torti (**kinky**
Excerpt 2
pathogenic VUS that were novel in tions included a new flowcell design and faster imaging and chemistry. the CMH database and dbSNP disclosed a frame-shifting **insertion**
Excerpt 3
prompting illness. epilepsy, rapid WGS disclosed a novel, homozygous frame-shifting Thus, rapid WGS, as described herein, was designed for prompt dis- **insertion**

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