A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia

Antzeko izenburuak

• Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa
  nork: Rajadhyaksha, Anjali M., et al.
  Argitaratua: (2010)
• Clinical Characterization of Retinitis Pigmentosa Associated With Variants in SNRNP200
  nork: Yusuf, Imran H., et al.
  Argitaratua: (2019)
• Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa
  nork: Cehajic-Kapetanovic, Jasmina, et al.
  Argitaratua: (2020)
• “Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS”
  nork: Cundy, Olivia, et al.
  Argitaratua: (2020)
• Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
  nork: Downes, Susan M., et al.
  Argitaratua: (2020)