Varaico: Literature-Extracted Genetic Variants

Gene:ETFB
Variant:p.R164W
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ETFB

NM_001985.3:p.R164W

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

A novel ETFB mutation in a patient with glutaric aciduria type II.

Sudo Y et al.

Human Genome Variation, 2015

Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.

Yotsumoto Y et al.

Molecular Genetics and Metabolism, 2008

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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."