Varaico: Literature-Extracted Genetic Variants

Gene:FLAD1
Variant:p.L518_D519Splc
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FLAD1

NM_025207.5:p.L518_D519Splc

Associated Papers

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.

García-Villoria J et al.

Clinical Genetics, 2018

Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.

Tolomeo M et al.

Free Radical Research, 0

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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."