Varaico: Literature-Extracted Genetic Variants

Gene:QRICH1
Variant:p.T305insFs
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QRICH1

NM_198880.3:p.T305insFs

Associated Papers

A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay.

Wang D et al.

Molecular Genetics & Genomic Medicine, 2023

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

Kumble S et al.

Human Mutation, 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."