Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G730_G743del14
Back to variants list

RPGR

NM_001034853.2:p.G730_G743del14

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

Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.

Fahim AT et al.

Plos One, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."