Varaico: Literature-Extracted Genetic Variants

Gene:FLAD1
Variant:p.V191fs
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FLAD1

NM_025207.5:p.V191fs

Associated Papers

New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases.

Murgia C et al.

Nutrition & Metabolism, 2023

Disorders of riboflavin metabolism.

Balasubramaniam S et al.

Journal of Inherited Metabolic Disease, 2019

Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy.

Auranen M et al.

Neuromuscular Disorders : Nmd, 2017

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Olsen RKJ et al.

American Journal of Human 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."