Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.H664P
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GUCY2D

NM_000180.4:p.H664P

Associated Papers

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Vincke L et al.

Npj Genomic Medicine, 2025

40055385 (PubMed )
Supplement: 41525_2025_473_MOESM2_ESM.xlsx › Sheet1

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Moon D et al.

Genes, 2021

Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.

Han J et al.

Molecular Vision, 2017

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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."