Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.D410fs
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PKP2

NM_001005242.3:p.D410fs

Associated Papers

Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.

van der Wilt CN et al.

European Heart Journal Open, 2026

Modeling reduced contractility and impaired desmosome assembly due to plakophilin-2 deficiency using isogenic iPS cell-derived cardiomyocytes.

Inoue H et al.

Stem Cell Reports, 2022

35063130 (PubMed )
Supplement: mmc7.pdf
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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."