Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.Y271C
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ETFDH

NM_004453.4:p.Y271C

Associated Papers

Riboflavin-responsive lipid-storage myopathy in elderly patients.

Sadeh M et al.

Journal of the Neurological Sciences, 2024

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Tong W et al.

Scientific Reports, 2018

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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."