Varaico: Literature-Extracted Genetic Variants

Gene:MTTP
Variant:p.S563Y
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MTTP

NM_001386140.1:p.S563Y

Associated Papers

A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.

Sasaki K et al.

Journal of Atherosclerosis and Thrombosis, 2024

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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."