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1
Q91511417-E148706A-CE7F-492C-A64B-B1FC0201A6F3
Q91511417-E148706A-CE7F-492C-A64B-B1FC0201A6F3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q91511417-E148706A-CE7F-492C-A64B-B1FC0201A6F3
Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion
P50
Q91511417-E148706A-CE7F-492C-A64B-B1FC0201A6F3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q91511417-E148706A-CE7F-492C-A64B-B1FC0201A6F3
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
ecc6b55d168e3ba7efd9c1ee262468021a1f1850
P1545
14
http://www.w3.org/2001/XMLSchema#string
P50
Michal R Szymanski