Varaico: Literature-Extracted Genetic Variants

Gene:TMEM43
Variant:p.V89M
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TMEM43

NM_024334.3:p.V89M

Associated Papers

Transmembrane Protein 43: Molecular and Pathogenetic Implications in Arrhythmogenic Cardiomyopathy and Various Other Diseases.

Orgil BO et al.

International Journal of Molecular Sciences, 2025

Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People.

Miura A et al.

International Heart Journal, 2024

Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.

Jeong JH et al.

Korean Circulation Journal, 2023

37653714 (PubMed )
Supplement: kcj-53-693-s007.xls › kcj-53-693-s007

Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.

Zink M et al.

International Journal of Molecular Sciences, 2022

Systems genetics analysis defines importance of TMEM43/LUMA for cardiac- and metabolic-related pathways.

Gu Q et al.

Physiological Genomics, 2022

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Ueda A et al.

Plos One, 2022

35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Fetal arrhythmogenic right ventricular cardiomyopathy with double mutations in TMEM43.

Honda T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2016

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

Baskin B et al.

Human Genetics, 2013

TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.

Liang WC et al.

Annals of Neurology, 2011

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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."