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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTC1

Variant:p.E102G

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ACTC1

NM_005159.5:p.E102G

hg38:chr15:34793394 T>C

Associated Papers

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Pezzoli L et al.

Journal of Cardiovascular Development and Disease, 2021

35050212 (PubMed )

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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."