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

Míreanna comhchosúla

• Retinitis pigmentosa caused by variants in SNRNP200
  de réir: Yusuf, IH, et al.
  Foilsithe / Cruthaithe: (2019)
• Clinical characterization of retinitis pigmentosa associated with variants in SNRNP200
  de réir: Yusuf, IH, et al.
  Foilsithe / Cruthaithe: (2019)
• Association of a novel intronic variant in RPGR with hypomorphic phenotype of x-linked retinitis pigmentosa
  de réir: Cehajic-Kapetanovic, J, et al.
  Foilsithe / Cruthaithe: (2020)
• "Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS"
  de réir: Cundy, O, et al.
  Foilsithe / Cruthaithe: (2020)
• Genetic and clinical findings in an ethnically diverse cohort with Retinitis Pigmentosa associated with pathogenic variants in CERKL
  de réir: Downes, SM, et al.
  Foilsithe / Cruthaithe: (2020)