Varaico: Literature-Extracted Genetic Variants

Gene:PRDM16
Variant:p.R525fs
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PRDM16

NM_022114.4:p.R525fs

Associated Papers

The Trouble with Trabeculation: How Genetics Can Help to Unravel a Complex and Controversial Phenotype.

Walsh R

Journal of Cardiovascular Translational Research, 2023

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Khan RS et al.

Journal of the American Heart Association, 2022

Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.

Schultze-Berndt A et al.

Frontiers in Pediatrics, 2021

34540771 (PubMed )
Supplement: Data_Sheet_1.PDF

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

Delplancq G et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

Arndt AK et al.

American Journal of Human Genetics, 2013

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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."