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References from Novel eye genes systematically discovered through an integrated analysis of mouse transcriptomes and phenome. Local targets link to admitted publications; unresolved targets remain external evidence.
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Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
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CRYBA4, a novel human cataract gene, is also involved in microphthalmia
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Molecular genetic analysis of Pakistani families with autosomal recessive congenital cataracts by homozygosity screening
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Coat color dilution in mice because of inactivation of the melanoma antigen MART-1
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A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy
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A novel splice variant of the Excitatory Amino Acid Transporter 5: cloning, immunolocalization and functional characterization of hEAAT5v in human retina
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Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family
10.1111/cge.12489 · 2015 · External reference
10.1007/s00439-019-02022-8
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Novel mutations in the crystallin gene in age-related cataract patients from a north indian population
10.1159/000471992 · 2017 · External reference
Phenotypes of recessive pediatric cataract in a cohort of children with identified homozygous gene mutations (an American Ophthalmological Society thesis)
2015 · External reference
Mutations in IMPG1 cause vitelliform macular dystrophies
10.1016/j.ajhg.2013.07.018 · 2013 · External reference
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa
10.1073/pnas.1108918108 · 2011 · External reference
10.1016/j.ajhg.2011.07.005
10.1016/j.ajhg.2011.07.005 · External reference
Zinc-binding domain-dependent, deaminase-independent actions of apolipoprotein B mRNA-editing enzyme, catalytic polypeptide 2 (Apobec2), mediate its effect on zebrafish retina regeneration
10.1074/jbc.m114.603043 · 2014 · External reference
Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases
2006 · External reference
10.1371/journal.pone.0028791
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Characterization of Ca2+-binding protein 5 knockout mouse retina
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10.1093/gbe/evt028
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Zebrafish: a model system for the study of eye genetics
10.1016/j.preteyeres.2007.08.002 · 2008 · External reference
10.1371/journal.pgen.0040029
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Panky, a novel photoreceptor-specific ankyrin repeat protein, is a transcriptional cofactor that suppresses CRX-regulated photoreceptor genes
10.1016/j.febslet.2009.12.030 · 2010 · External reference
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A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family
10.1167/iovs.04-0955 · 2005 · External reference
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15
10.1086/316894 · 2000 · External reference
Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region
10.1038/sj.ejhg.5201197 · 2004 · External reference
A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family
2001 · External reference
Dominant cystoid macular dystrophy
10.1016/j.ophtha.2014.07.053 · 2015 · External reference
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q
10.1038/ejhg.2012.158 · 2013 · External reference
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1
10.1038/jhg.2012.79 · 2012 · External reference
Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region
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