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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTN2

Variant:p.G111_V112ins1

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ACTN2

NM_001103.4:p.G111_V112ins1

hg38:chr1:236718985 G>GTCA

Associated Papers

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Allouba M et al.

European Heart Journal, 2023

37431535 (PubMed )

Supplement: ehad372_supplementary_data.zip › supplementary_tables_revised_version_Feb2023.xlsx › Table_S3

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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."