Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.Q847_K848delins
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GUCY2D

NM_000180.4:p.Q847_K848delins

Associated Papers

Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.

Sharon D et al.

Progress in Retinal and Eye Research, 2018

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

Lazar CH et al.

Investigative Ophthalmology & Visual Science, 2014

A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.

Xiao X et al.

Molecular Vision, 2011

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

Fernández-Burriel M et al.

Pediatric Research, 2008

Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray.

Yoshida S et al.

Molecular Vision, 2006

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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."