Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.W278Splc
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SURF1

NM_003172.4:p.W278Splc

Associated Papers

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

Lee IC et al.

Antioxidants (basel, Switzerland), 2021

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

Leigh Syndrome and SURF1 Gene Presenting with Febrile Seizure.

Panda PK et al.

Annals of Indian Academy of Neurology, 0

Only Pathogenic SURF-1 Variants Cause Leigh Syndrome.

Finsterer J

Annals of Indian Academy of Neurology, 0

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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."