Associated Papers
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.
Chang L et al.
European Journal of Human Genetics : Ejhg, 2026
Clinical Characteristics, Differential Diagnosis and Genetic Analysis of Concentric Retinitis Pigmentosa.
Nakahara M et al.
Life (basel, Switzerland), 2021
SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes.
Hariprakash JM et al.
Database : the Journal of Biological Databases and Curation, 2018
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion.
Reiner J et al.
Npj Genomic Medicine, 2018
Mutations in spliceosomal proteins and retina degeneration.
Růžičková Š et al.
Rna Biology, 2017
Pseudogenes and their composers: delving in the 'debris' of human genome.
Sen K et al.
Briefings in Functional Genomics, 2013
Genome-wide identification of pseudogenes capable of disease-causing gene conversion.
Bischof JM et al.
Human Mutation, 2006
Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex.
Maita H et al.
Experimental Cell Research, 2005
PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor.
Maita H et al.
Experimental Cell Research, 2004
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.
Keen TJ et al.
European Journal of Human Genetics : Ejhg, 2002
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