Varaico: Literature-Extracted Genetic Variants

Gene:MTTP
Variant:p.Q52*
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MTTP

NM_001386140.1:p.Q52*

Associated Papers

A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.

Rodríguez Gutiérrez PG et al.

Journal of Clinical Laboratory Analysis, 2021

Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.

Vlasschaert C et al.

Journal of Investigative Medicine High Impact Case Reports, 0

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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."