Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.G172Splc
Back to variants list

SURF1

NM_003172.4:p.G172Splc

Associated Papers

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

Lee IC et al.

Antioxidants (basel, Switzerland), 2021

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

23829769 (PubMed )
Supplement: 1750-1172-8-96-S1.docx

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

Lee IC et al.

Human Mutation, 2012

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."