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Paper Details

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
J Hum Genet
63
2017
ANO5, CAPN3, COL6A1, COL6A3, DMD, Duchenne muscular dystrophy, FLNC, GAA, LAMA2, LGMD, LMNA, Pompe disease, RYR1, SMCHD1, VCP, congenital myopathy, facioscapulohumeral muscular dystrophy, inclusion body myopathy, limb-girdle muscular dystrophy, muscle disease, myofibrillar myopathy, neuromuscular conditions
Author NameAffiliation
Monkol LekMassachusetts General Hospital and Harvard Medical School
Monkol LekBroad Institute of the Massachusetts Institute of Technology and Harvard University
Elise ValkanasMassachusetts General Hospital and Harvard Medical School
Elise ValkanasBroad Institute of the Massachusetts Institute of Technology and Harvard University
Basil T DarrasBoston Children's Hospital and Harvard Medical School
Anthony A AmatoBrigham and Women's Hospital and Harvard Medical School
Hart G W LidovBoston Children's Hospital and Harvard Medical School
Catherine A BrownsteinBoston Children's Hospital and Harvard Medical School
Catherine A BrownsteinResearch Connection and Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School
Catherine A BrownsteinBoston Children's Hospital and Harvard Medical School
Catherine A BrownsteinResearch Connection and Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School
David M MarguliesBoston Children's Hospital and Harvard Medical School
David M MarguliesResearch Connection and Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School
Timothy W YuBoston Children's Hospital and Harvard Medical School
Timothy W YuBoston Children's Hospital and Harvard Medical School
Louis M KunkelBoston Children's Hospital and Harvard Medical School
Daniel G MacArthurMassachusetts General Hospital and Harvard Medical School
Daniel G MacArthurBroad Institute of the Massachusetts Institute of Technology and Harvard University
Daniel G MacArthurMassachusetts General Hospital and Harvard Medical School
Daniel G MacArthurBroad Institute of the Massachusetts Institute of Technology and Harvard University
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