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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SNRNP40

Variant:p.P10S

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SNRNP40

NM_004814.3:p.P10S

hg38:chr1:31296724 G>A

Associated Papers

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

Arriaga TM et al.

American Journal of Human Genetics, 2025

40975062 (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."