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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MED13L

Variant:p.G260delFs

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MED13L

NM_015335.5:p.G260delFs

hg38:chr12:116019818 TC>T

Associated Papers

MED13L-related disorder characterized by severe motor speech impairment.

Mitchel MW et al.

Journal of Neurodevelopmental Disorders, 2025

40993520 (PubMed )

Supplement: 11689_2025_9645_MOESM1_ESM.xlsx › Table_S2

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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."