Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS4
Variant:p.W114R
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NDUFS4

NM_002495.4:p.W114R

Associated Papers

Accessory Subunits of the Matrix Arm of Mitochondrial Complex I with a Focus on Subunit NDUFS4 and Its Role in Complex I Function and Assembly.

Kahlhöfer F et al.

Life (basel, Switzerland), 2021

Analysis of Human Mutations in the Supernumerary Subunits of Complex I.

Dang QL et al.

Life (basel, Switzerland), 2020

Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.

Ogawa E et al.

Journal of Inherited Metabolic Disease, 2020

31967322 (PubMed )
Supplement: JIMD-43-819-s004.xlsx › Sheet1

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.

Ogawa E et al.

Journal of Inherited Metabolic Disease, 2017

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Kohda M et al.

Plos Genetics, 2016

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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."