Associated Papers
Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals.
McConville BM et al.
Biorxiv : the Preprint Server for Biology, 2024
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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