Varaico: Literature-Extracted Genetic Variants

Gene:PLAT
Variant:p.G494A
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PLAT

NM_000930.5:p.G494A

Associated Papers

Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.

Moreno-Gázquez I et al.

Bmc Research Notes, 2023

A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.

Almazni I et al.

Human Mutation, 2020

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Sassi C et al.

Plos One, 2016

27249223 (PubMed )
Supplement: pone.0150079.s002.xlsx › Tabelle1
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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."