Varaico: Literature-Extracted Genetic Variants

Gene:PRDM16
Variant:p.E271K
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PRDM16

NM_022114.4:p.E271K

Associated Papers

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

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

Ware JS et al.

Journal of the American College of Cardiology, 2018

29773157 (PubMed )
Supplement: mmc2.xlsx › Final_VariantList_Rare_ACMonly

Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome.

de Leeuw N et al.

American Journal of Human Genetics, 2014

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."