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Targeted Massively Parallel Sequencing of Candidate Regions on Chromosome 22q Predisposing to Multiple Schwannomas: an Analysis of 51 Individuals in a Single-Center Experience.

Arkadiusz Piotrowski,Magdalena Koczkowska,Andrzej B. Poplawski,Rafal Bartoszewski,Jaroslaw Kroliczewski,Alina Mieczkowska,Alicia Gomes,Michael R. Crowley,David K. Crossman,Yunjia Chen,Ping Lao,Eduard Serra,Meritxell C. Llach,Elisabeth Castellanos,Ludwine M. Messiaen

Human mutation（2021）

引用 3|浏览41
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关键词
deep intronic variant,low level mosaicism,LZTR1,massively parallel sequencing,MYO18B,NEFH,NF2,SBF1,schwannomatosis,SGSM1,SGSM3,SMARCB1
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