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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPM1

Variant:p.K213_Y214Splc

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TPM1

NM_001018005.2:p.K213_Y214Splc

hg38:chr15:63061810 G>C

Associated Papers

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Posch MG et al.

Plos One, 2011

22194935 (PubMed )

Supplement: pone.0028872.s001.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."