Varaico: Literature-Extracted Genetic Variants

Gene:PRDM16
Variant:p.D628N
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PRDM16

NM_022114.4:p.D628N

Associated Papers

The clinical profile, genetic basis and survival of childhood cardiomyopathy: a single-center retrospective study.

Yuan W et al.

European Journal of Pediatrics, 2024

Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.

van der Meulen MH et al.

Circulation. Genomic and Precision Medicine, 2022

36178741 (PubMed )
Supplement: hcg-15-e002981-s001.pdf

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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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."