Varaico: Literature-Extracted Genetic Variants

Gene:MTTP
Variant:p.P72delFs
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MTTP

NM_001386140.1:p.P72delFs

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: two case reports and literature review.

Zamel R et al.

Orphanet Journal of Rare Diseases, 2008

18611256 (PubMed )
Supplement: 1750-1172-3-19-S1.doc

Clinical features and molecular bases of neuroacanthocytosis.

Rampoldi L et al.

Journal of Molecular Medicine (berlin, Germany), 2002

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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."