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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MED14

Variant:p.D789Splc

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MED14

NM_004229.4:p.D789Splc

hg38:chrX:40682601 A>G

Associated Papers

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

Stark JC et al.

Genome Medicine, 2025

40597352 (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."