Varaico: Literature-Extracted Genetic Variants

Gene:MASP1
Variant:p.T472I
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MASP1

NM_139125.4:p.T472I

Associated Papers

Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.

Elmas M et al.

Molecular Syndromology, 2020

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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."