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Paper Details

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.
Eur J Hum Genet
9
2019
Author NameAffiliation
Beryl B CummingsBroad Institute of Harvard and Massachusetts Institute of Technology
Daniel G MacArthurBroad Institute of Harvard and Massachusetts Institute of Technology
Daniel G MacArthurMassachusetts General Hospital
Daniel G MacArthurHarvard Medical School
Daniel G MacArthurBroad Institute of Harvard and Massachusetts Institute of Technology
Daniel G MacArthurMassachusetts General Hospital
Daniel G MacArthurHarvard Medical School
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Release 1.2