Varaico: Literature-Extracted Genetic Variants

Gene:MTTP
Variant:p.H871delFs
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MTTP

NM_001386140.1:p.H871delFs

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

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.

Najah M et al.

Diagnostic Pathology, 2013

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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."