Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.M1_A2insFs
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HSPB3

NM_006308.3:p.M1_A2insFs

Associated Papers

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.

Bastida JM et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

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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."