Varaico: Literature-Extracted Genetic Variants

Gene:TSFM
Variant:p.V119L
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TSFM

NM_005726.6:p.V119L

Associated Papers

Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.

Yang J et al.

Cells, 2022

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.

Mazzaccara C et al.

International Journal of Molecular Sciences, 2021

Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy.

Yang JO et al.

Frontiers in Cardiovascular Medicine, 2021

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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."