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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTC7A

Variant:p.E814K

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TTC7A

NM_020458.4:p.E814K

hg38:chr2:47073786 G>A

Associated Papers

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.

Nunes-Santos CJ et al.

Nature Communications, 2023

37349293 (PubMed )

Supplement: 41467_2023_39272_MOESM1_ESM.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."