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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYOM2

Variant:p.S452F

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MYOM2

NM_003970.4:p.S452F

hg38:chr8:2078826 C>T

Associated Papers

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.

Gordon DM et al.

Plos Genetics, 2022

35737725 (PubMed )

Supplement: pgen.1010236.s001.docx

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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."