Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.N178_R179delFs
Back to variants list

SURF1

NM_003172.4:p.N178_R179delFs

Associated Papers

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

Menezes MP et al.

Mitochondrion, 2016

SURF1 deficiency: a multi-centre natural history study.

Wedatilake Y et al.

Orphanet Journal of Rare Diseases, 2013

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.

Bruno C et al.

Journal of Child Neurology, 2002

Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.

Rossi A et al.

Ajnr. American Journal of Neuroradiology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."