Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.P218delFs
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SURF1

NM_003172.4:p.P218delFs

Associated Papers

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

Lee IC et al.

Antioxidants (basel, Switzerland), 2021

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.

Kose M et al.

Molecular Genetics and Metabolism Reports, 2020

The clinical and genetic characteristics in children with mitochondrial disease in China.

Fang F et al.

Science China. Life Sciences, 2017

SURF1 deficiency: a multi-centre natural history study.

Wedatilake Y et al.

Orphanet Journal of Rare Diseases, 2013

SURF1-associated Leigh syndrome: a case series and novel mutations.

Lee IC et al.

Human Mutation, 2012

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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."