Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.V122I
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EP300

NM_001429.4:p.V122I

Associated Papers

Increased Risk of Multiple Outpatient Surgeries in African-American Carriers of Transthyretin Val122Ile Mutation Is Modulated by Non-Coding Variants.

Polimanti R et al.

Journal of Clinical Medicine, 2019

30813263 (PubMed )
Supplement: jcm-08-00269-s001.pdf

In silico analysis of TTR gene (coding and non-coding regions, and interactive network) and its implications in transthyretin-related amyloidosis.

Polimanti R et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2014

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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."