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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMACHC

Variant:p.S240P

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MMACHC

NM_015506.3:p.S240P

hg38:chr1:45509084 T>C

Associated Papers

Defining the genetics of thrombotic microangiopathies.

Vieira-Martins P et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2016

27177491 (PubMed )

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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."