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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF19

Variant:p.Y329del1

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PRPF19

NM_014502.5:p.Y329del1

hg38:chr11:60898927 CAGT>C

Associated Papers

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Li D et al.

The Journal of Clinical Investigation, 2024

37962958 (PubMed )

Supplement: jci-134-171235-s246.xlsx › Sheet1

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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."