Varaico: Literature-Extracted Genetic Variants

Gene:MTTP
Variant:p.K448*
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MTTP

NM_001386140.1:p.K448*

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

Clinical features and molecular bases of neuroacanthocytosis.

Rampoldi L et al.

Journal of Molecular Medicine (berlin, Germany), 2002

Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.

Wang J et al.

Human Mutation, 2000

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."