Varaico: Literature-Extracted Genetic Variants

Gene:PRDM16
Variant:p.P889L
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PRDM16

NM_022114.4:p.P889L

Associated Papers

A rare genetic variant in PRDM16 is associated with Wolff-Parkinson-White syndrome with complex accessory pathway characteristics and left ventricular non-compaction cardiomyopathy.

Umapathi KK et al.

Cardiology in the Young, 2025

Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth.

Merc MD et al.

Prenatal Diagnosis, 2024

Postmortem genetic testing in sudden unexplained death: A public health laboratory experience.

Rohrer CT et al.

Journal of Forensic Sciences, 2023

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.

Coban-Akdemir ZH et al.

American Journal of Medical Genetics. Part A, 2020

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.

van der Linde IHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2017

28864942 (PubMed )
Supplement: 12471_2017_1037_MOESM2_ESM.docx
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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."