Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Q222*
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EMD

NM_000117.3:p.Q222*

Associated Papers

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.

Hayashi K et al.

Cardiovascular Research, 2020

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

31840275 (PubMed )
Supplement: MUS-61-436-s001.docx

Laminopathies.

Broers JL et al.

The Journal of Pathology, 2004

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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."