Varaico: Literature-Extracted Genetic Variants

Gene:ETFB
Variant:p.R85*
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ETFB

NM_001985.3:p.R85*

Associated Papers

DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.

Ge L et al.

Open Medicine (warsaw, Poland), 2024

39588385 (PubMed )
Supplement: med-2024-0916-sm2.xlsx › Additional_File_2

Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population.

Li X et al.

Frontiers in Genetics, 2021

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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."