Varaico: Literature-Extracted Genetic Variants

Gene:RERE
Variant:p.Y1245fs
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RERE

NM_001042681.2:p.Y1245fs

Associated Papers

A de novo variant of RERE was identified in a patient with neurodevelopmental disorder, enuresis and scoliosis.

Cai T et al.

Scientific Reports, 2025

A de novo variant in RERE causes autistic behavior by disrupting related genes and signaling pathway.

Li Q et al.

Clinical Genetics, 2024

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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."