Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP3
Variant:p.E309fs
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GTPBP3

NM_032620.4:p.E309fs

Associated Papers

Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review.

Zhang Q et al.

Genes, 2023

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

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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."