Varaico: Literature-Extracted Genetic Variants

Gene:RERE
Variant:p.G1156R
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RERE

NM_001042681.2:p.G1156R

Associated Papers

Zebrafish model of RERE syndrome recapitulates key ophthalmic defects that are rescued by small molecule inhibitor of shh signaling.

George A et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM6_ESM.xlsx › Feuil1

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Jordan VK et al.

Human Mutation, 2018

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Fregeau B et al.

American Journal of Human Genetics, 2016

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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."