Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.L783P
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GUCY2D

NM_000180.4:p.L783P

Associated Papers

Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.

Zamani M et al.

Molecular Genetics and Genomics : Mgg, 2022

A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report.

Salehi Chaleshtori AR et al.

Journal of Current Ophthalmology, 2019

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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."