Associated Papers
X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.
Fahim AT et al.
Ophthalmology. Retina, 2020
Molecular studies of phenotype variation in canine RPGR-XLPRA1.
Appelbaum T et al.
Molecular Vision, 2016
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H et al.
Nature Genetics, 2009
19430481 (PubMed )
Supplement: NIHMS103218-supplement-2.doc
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F et al.
Clinical Genetics, 2008
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