Varaico: Literature-Extracted Genetic Variants

Gene:PRPF3
Variant:p.V22insFs
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PRPF3

NM_004698.4:p.V22insFs

Associated Papers

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Hayashi Y et al.

Journal of Human Genetics, 2025

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

Bruselles A et al.

European Journal of Human Genetics : Ejhg, 2025

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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."