Varaico: Literature-Extracted Genetic Variants

Gene:FTO
Variant:p.S319F
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FTO

NM_001080432.3:p.S319F

Associated Papers

Revealing the Catalytic Strategy of FTO.

Varghese A et al.

Chem Catalysis, 2023

Case report: A novel biallelic FTO variant causing multisystem anomalies with severe epilepsy, widening the spectrum of FTO syndrome.

Mayman N et al.

Sage Open Medical Case Reports, 2023

Comprehensive mutations analyses of FTO (fat mass and obesity-associated gene) and their effects on FTO's substrate binding implicated in obesity.

Kumar R et al.

Frontiers in Nutrition, 2022

35923209 (PubMed )
Supplement: Data_Sheet_1.PDF

Complex Relationship between Obesity and the Fat Mass and Obesity Locus.

Yang Q et al.

International Journal of Biological Sciences, 2017

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

Daoud H et al.

Cmaj : Canadian Medical Association Journal = Journal De L'association Medicale Canadienne, 2016

FTO variant associated with malformation syndrome.

Rohena L et al.

American Journal of Medical Genetics. Part A, 2016

Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

Daoud H et al.

Journal of Medical Genetics, 2016

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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."