Varaico: Literature-Extracted Genetic Variants

Gene:LRPPRC
Variant:p.Q82*
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LRPPRC

NM_133259.4:p.Q82*

Associated Papers

Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.

Lee IC et al.

Antioxidants (basel, Switzerland), 2021

SURF1 deficiency: a multi-centre natural history study.

Wedatilake Y et al.

Orphanet Journal of Rare Diseases, 2013

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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."