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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
COX15
Variant:
p.L340P
Back to variants list
COX15
NM_078470.6:p.L340P
hg38:chr10:99716430 A>G
Frequencies & domains
Associated Papers
Clinical Phenotype and Neuroimaging Findings in Siblings with COX15 Deficiency: Case Report and Review of Previously Reported Cases.
AlFaris HS et al.
Movement Disorders Clinical Practice,
2025
40439182 (PubMed
)
Leigh Syndrome Due to the Variant c.1019T>C in COX15.
Finsterer J
Movement Disorders Clinical Practice,
2025
41013914 (PubMed
)
Reply: "Leigh Syndrome Due to the Variant c.1019T>C in COX15".
AlFaris HS et al.
Movement Disorders Clinical Practice,
2025
41013921 (PubMed
)
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