Varaico: Literature-Extracted Genetic Variants

Gene:UQCRB
Variant:p.R105fs
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UQCRB

NM_006294.5:p.R105fs

Associated Papers

A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant.

Koç Yekedüz M et al.

Molecular Syndromology, 2022

[Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency].

Zhang T et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017

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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."