Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.M1_T2insFs
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GUCY2D

NM_000180.4:p.M1_T2insFs

Associated Papers

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K et al.

Scientific Reports, 2018

Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.

Hosono K et al.

Journal of Ophthalmology, 2015

A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

Abbasi AH 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."