Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.Q251fs
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SURF1

NM_003172.4:p.Q251fs

Associated Papers

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3

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 Profile and Outcome of Pediatric Mitochondrial Myopathy in China.

Hu C et al.

Frontiers in Neurology, 2020

SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.

Li Y et al.

Gene, 2018

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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."