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Paper Details

Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy.
Neurol Genet
6
2021
A, Congenital Myopathy, Distal arthrogryposis, TNNT3, TNNT3 variant, TNNT3 variants, TNNT3-related congenital myopathy, arthrogryposis, autosomal dominant distal arthrogryposis type 2B2, c.481-, c.681+, congenital myopathies, congenital myopathy, consensus splice acceptor, distal, distal arthrogryposis, fast skeletal muscle troponin T, high-arched palate, hypotonia, limb, bulbar, and respiratory muscle weakness, nemaline myopathy, nemaline rods, patient, polyhydramnios, recessive congenital myopathy, scoliosis
Author NameAffiliation
Zeynep Coban AkdemirBaylor College of Medicine, TX Texas Children's Hospital (D.G.C., Kuwait University, University of Texas Health Science Center, University of Texas Health Science Center at Houston-McGovern Medical School
Shalini N JhangianiBaylor College of Medicine, TX Texas Children's Hospital (D.G.C., Kuwait University, University of Texas Health Science Center, University of Texas Health Science Center at Houston-McGovern Medical School
Richard A GibbsBaylor College of Medicine, TX Texas Children's Hospital (D.G.C., Kuwait University, University of Texas Health Science Center, University of Texas Health Science Center at Houston-McGovern Medical School
Richard A GibbsBaylor College of Medicine, TX Texas Children's Hospital (D.G.C., Kuwait University, University of Texas Health Science Center, University of Texas Health Science Center at Houston-McGovern Medical School
Jennifer E PoseyBaylor College of Medicine, TX Texas Children's Hospital (D.G.C., Kuwait University, University of Texas Health Science Center, University of Texas Health Science Center at Houston-McGovern Medical School
James R LupskiBaylor College of Medicine, TX Texas Children's Hospital (D.G.C., Kuwait University, University of Texas Health Science Center, University of Texas Health Science Center at Houston-McGovern Medical School
James R LupskiBaylor College of Medicine, TX Texas Children's Hospital (D.G.C., Kuwait University, University of Texas Health Science Center, University of Texas Health Science Center at Houston-McGovern Medical School
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Release 1.2