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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DMD

Variant:p.D2930G

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DMD

NM_004006.3:p.D2930G

hg38:chrX:31478254 T>C

Associated Papers

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Jackson A et al.

Nature Genetics, 2025

40442284 (PubMed )

Supplement: 41588_2025_2209_MOESM1_ESM.pdf

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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."