Varaico: Literature-Extracted Genetic Variants

Gene:CTNND1
Variant:p.R317C
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CTNND1

NM_001085458.2:p.R317C

Associated Papers

Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.

Wang Y et al.

Progress in Retinal and Eye Research, 2025

Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.

Le V et al.

Cells, 2023

CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis.

Yang M et al.

Jci Insight, 2022

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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."