Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.Q80R
Back to variants list

SURF1

NM_003172.4:p.Q80R

Associated Papers

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

Lee IC et al.

Antioxidants (basel, Switzerland), 2021

Mechanisms and Treatments in Demyelinating CMT.

Fridman V et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021

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

SURF1 missense mutations promote a mild Leigh phenotype.

Piekutowska-Abramczuk D et al.

Clinical Genetics, 2009

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."