Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP3
Variant:p.P279L
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GTPBP3

NM_032620.4:p.P279L

Associated Papers

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

Zhang Q et al.

Genes, 2023

Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.

Yan HM et al.

Frontiers in Genetics, 2021

Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience.

Elmas M et al.

Molecular Biology Reports, 2019

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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."