Varaico: Literature-Extracted Genetic Variants

Gene:MYOM1
Variant:p.E247K
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MYOM1

NM_003803.4:p.E247K

Associated Papers

Benefits and outcomes of a new multidisciplinary approach for the management and financing of sudden unexplained death cases in a forensic setting in Switzerland.

Neubauer J et al.

Forensic Science International, 2022

Titin-truncating mutations associated with dilated cardiomyopathy alter length-dependent activation and its modulation via phosphorylation.

Vikhorev PG et al.

Cardiovascular Research, 2022

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Prelamin A mediates myocardial inflammation in dilated and HIV-associated cardiomyopathies.

Brayson D et al.

Jci Insight, 2019

31622279 (PubMed )
Supplement: jciinsight-4-126315-s230.pdf

Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa.

Sujirakul T et al.

American Journal of Ophthalmology, 2015

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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."