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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHF12

Variant:p.E847K

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PHF12

NM_001033561.2:p.E847K

hg38:chr17:28907592 C>T

Associated Papers

α-Actinin-1 promotes activity of the L-type Ca2+ channel Cav 1.2.

Turner M et al.

The Embo Journal, 2020

31985069 (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."