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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EMD

Variant:p.L239_F240delFs

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EMD

NM_000117.3:p.L239_F240delFs

hg38:chrX:154381146 CCTCTT>C

Associated Papers

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.

Bulmer L et al.

European Journal of Human Genetics : Ejhg, 2025

40065010 (PubMed )

Supplement: 41431_2025_1827_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."