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Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
PLoS One. 2011;6(8):e23021. doi: 10.1371/journal.pone.0023021. Epub 2011 Aug 12.
PLoS One. 2011.
PMID: 21857984
Free PMC article.
Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.
Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP.
Fahim AT, et al. Among authors: webb kd.
Adv Exp Med Biol. 2012;723:313-20. doi: 10.1007/978-1-4614-0631-0_41.
Adv Exp Med Biol. 2012.
PMID: 22183348
Free PMC article.
No abstract available.
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Mutation Screening in the miR-183/96/182 Cluster in Patients With Inherited Retinal Dystrophy.
Xu S, Coku A, Muraleedharan CK, Harajli A, Mishulin E, Dahabra C, Choi J, Garcia WJ, Webb K, Birch D, Goetz K, Li W.
Xu S, et al.
Front Cell Dev Biol. 2020 Dec 23;8:619641. doi: 10.3389/fcell.2020.619641. eCollection 2020.
Front Cell Dev Biol. 2020.
PMID: 33425925
Free PMC article.
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