Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1033Q
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RPGR

NM_001034853.2:p.E1033Q

Associated Papers

Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.

Fahim AT et al.

Advances in Experimental Medicine and Biology, 2012

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

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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."