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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DSG2

Variant:p.D162_V163insFs

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DSG2

NM_001943.5:p.D162_V163insFs

hg38:chr18:31521205 A>ATCCAGCC

Associated Papers

Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant.

Sumida T et al.

Human Genome Variation, 2024

39706847 (PubMed )

Supplement: 41439_2024_304_MOESM1_ESM.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."