Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.H664R
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GUCY2D

NM_000180.4:p.H664R

Associated Papers

Updating the Genetic Landscape of Inherited Retinal Dystrophies.

García Bohórquez B et al.

Frontiers in Cell and Developmental Biology, 2021

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

Helou J et al.

Journal of Medical Genetics, 2007

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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."