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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MED15

Variant:p.V513Splc

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MED15

NM_001003891.3:p.V513Splc

hg38:chr22:20583112 G>A

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-s253.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."