Varaico: Literature-Extracted Genetic Variants

Gene:PRDM16
Variant:p.R525insFs
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PRDM16

NM_022114.4:p.R525insFs

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

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

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."