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1 patient data entry collated from reference Sofou et al, 2013.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
457R852C1
W748S5
Q497H2
E1143G
Alpers/ Alpers–Huttenlocher.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/an/a

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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