BMC Research Notes

Table 1 Known pathological variants of human COX10

From: Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome

M1X	Lethal	[6]
T14I/T377I	Pathogenic	[3]
T196K/P225L	Lethal	[7]
N204K	Lethal	[8]
N204D	Lethal	[9]
G288R	Lethal	[10]
D336V/D336G	Lethal	[7]
D336V/R339W	Pathogenic	[2]
P420L	Lethal	[3]

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ISSN: 1756-0500

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