Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy

Lignende værker

• Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy
  af: Dilaver, Nafi, et al.
  Udgivet: (2017)
• Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy
  af: Zamani, Mina, et al.
  Udgivet: (2020)
• Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome
  af: Zamani, Mina, et al.
  Udgivet: (2020)
• Mutations in JPH2-Encoded Junctophilin-2 Associated with Hypertrophic Cardiomyopathy in Humans
  af: Landstrom, Andrew P., et al.
  Udgivet: (2007)
• The junctophilin family of proteins: From bench to bedside
  af: Landstrom, Andrew P., et al.
  Udgivet: (2014)