Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E83del1
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TTR

NM_000371.4:p.E83del1

Associated Papers

Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.

Reddi HV et al.

The Journal of Molecular Diagnostics : Jmd, 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."