Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.E837_R838delins
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GUCY2D

NM_000180.4:p.E837_R838delins

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 findings from 537 individuals with inherited retinal disease.

Ellingford JM et al.

Journal of Medical Genetics, 2016

27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf

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

Xiao X et al.

Molecular Vision, 2011

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