Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.V276_T277ins6
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SURF1

NM_003172.4:p.V276_T277ins6

Associated Papers

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 validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.

Ogawa E et al.

Journal of Inherited Metabolic Disease, 2017

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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."