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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF4

Variant:p.P22insFs

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PRPF4

NM_001244926.2:p.P22insFs

hg38:chr9:113276584 C>CT

Associated Papers

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Hayashi Y et al.

Journal of Human Genetics, 2025

41408479 (PubMed )

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

Bruselles A et al.

European Journal of Human Genetics : Ejhg, 2025

40011755 (PubMed )

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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."