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Year | Number of Results |
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2010 | 1 |
2011 | 1 |
2013 | 1 |
2025 | 0 |
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Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Hum Mol Genet. 2010 Apr 1;19(7):1302-13. doi: 10.1093/hmg/ddq006. Epub 2010 Jan 8.
Hum Mol Genet. 2010.
PMID: 20061330
Free PMC article.
X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.
Bowles K, Cukras C, Turriff A, Sergeev Y, Vitale S, Bush RA, Sieving PA.
Bowles K, et al.
Invest Ophthalmol Vis Sci. 2011 Nov 29;52(12):9250-6. doi: 10.1167/iovs.11-8115.
Invest Ophthalmol Vis Sci. 2011.
PMID: 22039241
Free PMC article.
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Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE.
Sergeev YV, et al.
Hum Mol Genet. 2013 Dec 1;22(23):4756-67. doi: 10.1093/hmg/ddt329. Epub 2013 Jul 11.
Hum Mol Genet. 2013.
PMID: 23847049
Free PMC article.
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