Variant: rs104894459 

    present in Gene: NRL
    present in Chromosome: 14
    Position on Chromosome: 24082701
    Alleles of this Variant: A/T

rs104894459 in NRL gene and RETINITIS PIGMENTOSA 27 PMID 11385710 2001 Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.

PMID 17335001 2007 Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

PMID 15591106 2004 Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

PMID 21981118 2012 Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.

PMID 15994872 2005 Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

PMID 22334370 2012 Next-generation genetic testing for retinitis pigmentosa.

PMID 11879142 2002 Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.

PMID 10192380 1999 A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.