Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.P183S
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SURF1

NM_003172.4:p.P183S

Associated Papers

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations

SURF1 missense mutations promote a mild Leigh phenotype.

Piekutowska-Abramczuk D et al.

Clinical Genetics, 2009

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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."