Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.K583_L584Splc
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GUCY2D

NM_000180.4:p.K583_L584Splc

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

Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.

Xu Y et al.

Experimental Eye Research, 2016

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

Li L et al.

Plos One, 2011

21602930 (PubMed )
Supplement: pone.0019458.s003.xls › Sheet1

Molecular characterization of Leber congenital amaurosis in Koreans.

Seong MW et al.

Molecular Vision, 2008

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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."