Varaico: Literature-Extracted Genetic Variants

Gene:MRPS34
Variant:p.G75R
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MRPS34

NM_023936.2:p.G75R

Associated Papers

Genetic Diagnosis in a Cohort of Adult Patients with Inherited Metabolic Diseases: A Single-Center Experience.

Lenzini L et al.

Biomolecules, 2022

A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome.

Lenzini L et al.

Molecular Genetics and Metabolism Reports, 2022

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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."