Varaico: Literature-Extracted Genetic Variants

Gene:MTTP
Variant:p.V42I
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MTTP

NM_001386140.1:p.V42I

Associated Papers

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

Liu Y et al.

Bmc Oral Health, 2024

38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM2_ESM.xls › Supplementary_Table_1

A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids.

Schneider CV et al.

Alimentary Pharmacology & Therapeutics, 2023

Identification of deleterious rare variants in MTTP, PNPLA3, and TM6SF2 in Japanese males and association studies with NAFLD.

Boonvisut S et al.

Lipids in Health and Disease, 2017

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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."