Varaico: Literature-Extracted Genetic Variants

Gene:FDXR
Variant:p.A443T
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FDXR

NM_024417.5:p.A443T

Associated Papers

FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.

Masnada S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

37046037 (PubMed )
Supplement: 10072_2023_6790_MOESM1_ESM.xlsx › Foglio1

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Jurkute N et al.

Investigative Ophthalmology & Visual Science, 2021

33938912 (PubMed )
Supplement: iovs-62-6-2_s003.pdf

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Peng Y et al.

Human Molecular Genetics, 2017

29040572 (PubMed )
Supplement: ddx377_supplementary_data_09282017.pdf
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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."