Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy

Lignende værker

• Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes
  af: Franaszczyk, Maria, et al.
  Udgivet: (2020)
• Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations
  af: Franaszczyk, Maria, et al.
  Udgivet: (2017)
• AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
  af: Szczałuba, Krzysztof, et al.
  Udgivet: (2020)
• A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance NLRP3 Variant
  af: Chmielewski, Przemysław, et al.
  Udgivet: (2020)
• Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
  af: Pollak, Agnieszka, et al.
  Udgivet: (2017)