Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.T849A
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GUCY2D

NM_000180.4:p.T849A

Associated Papers

GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance-A Multicenter Case Series and Review of Reported Data.

Neubauer J et al.

Genes, 2022

35205358 (PubMed )
Supplement: genes-13-00313-s001.zip › genes-1538777-supplementary.pdf

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

Sharon D et al.

Progress in Retinal and Eye Research, 2018

GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.

Jiang F et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2015

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 novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.

Zhao X et al.

Molecular Vision, 2013

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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."