Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.G135_A136Splc
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ETFDH

NM_004453.4:p.G135_A136Splc

Associated Papers

Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.

Wen B et al.

Human Molecular Genetics, 2022

[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].

Feng LF et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.

Yamada K et al.

Brain & Development, 2016

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.

Grünert SC

Orphanet Journal of Rare Diseases, 2014

25200064 (PubMed )
Supplement: s13023-014-0117-5-S1.doc

Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.

Wen B et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

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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."