Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.G161D
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BEST1

NM_004183.4:p.G161D

Associated Papers

Canine Best disease as a translational model.

Aguirre GD et al.

Eye (london, England), 2025

Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.

Holtes LK et al.

Progress in Retinal and Eye Research, 2025

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.

Meadows JRS et al.

Genome Biology, 2023

37582787 (PubMed )
Supplement: 13059_2023_3023_MOESM1_ESM.xlsx › Table_S16

Bestrophinopathy: An RPE-photoreceptor interface disease.

Guziewicz KE et al.

Progress in Retinal and Eye Research, 2017

Canine multifocal retinopathy caused by a BEST1 mutation in a Boerboel.

Gornik KR et al.

Veterinary Ophthalmology, 2014

The genetics of eye disorders in the dog.

Mellersh CS

Canine Genetics and Epidemiology, 2014

Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects.

Guziewicz KE et al.

Plos One, 2013

Canine multifocal retinopathy in the Australian Shepherd: a case report.

Hoffmann I et al.

Veterinary Ophthalmology, 2012

Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies.

Miyadera K et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2012

Modeling the structural consequences of BEST1 missense mutations.

Guziewicz KE et al.

Advances in Experimental Medicine and Biology, 2012

Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.

Guziewicz KE et al.

Investigative Ophthalmology & Visual Science, 2011

Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).

Zangerl B et al.

Molecular Vision, 2010

Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.

Guziewicz KE et al.

Investigative Ophthalmology & Visual Science, 2007

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