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Long-read Genome Sequencing Identifies Causal Structural Variation in a Mendelian Disease

Jason D Merker,Aaron M Wenger,Tam Sneddon,Megan Grove,Zachary Zappala,Laure Fresard,Daryl Waggott,Sowmi Utiramerur,Yanli Hou,Kevin S Smith,Stephen B Montgomery,Matthew Wheeler,Jillian G Buchan,Christine C Lambert,Kevin S Eng,Luke Hickey,Jonas Korlach,James Ford,Euan A Ashley

Genetics in Medicine（2017）

引用 199|浏览118
关键词
Carney complex,long-read sequencing,PacBio,PRKAR1A,structural variant
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