Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD18A
Variant:p.E799del1
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ANKRD18A

NM_147195.4:p.E799del1

Associated Papers

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.

Johnson B et al.

Research and Practice in Thrombosis and Haemostasis, 2018

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

Johnson B et al.

Haematologica, 2016

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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."