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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CIMAP2

Variant:p.A8V

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CIMAP2

NM_001110533.2:p.A8V

hg38:chr1:54806139 C>T

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."