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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYH7

Variant:p.I356I

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MYH7

NM_000257.4:p.I356I

hg38:chr14:23429845 G>T

Associated Papers

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Kanavy DM et al.

Genome Medicine, 2019

31783775 (PubMed )

Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S8_PAH_A

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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."