Varaico: Literature-Extracted Genetic Variants

Gene:PRDM16
Variant:p.Q897_M898Splc
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PRDM16

NM_022114.4:p.Q897_M898Splc

Associated Papers

Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.

Brodehl A et al.

International Journal of Molecular Sciences, 2021

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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."