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Q34121020-682EA73E-ED1E-477D-AD2B-E52DC3D3FF77
Q34121020-682EA73E-ED1E-477D-AD2B-E52DC3D3FF77
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34121020-682EA73E-ED1E-477D-AD2B-E52DC3D3FF77
Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.
P2860
Q34121020-682EA73E-ED1E-477D-AD2B-E52DC3D3FF77
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34121020-682EA73E-ED1E-477D-AD2B-E52DC3D3FF77
rank
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wasDerivedFrom
a3c6a23b488d160adb98fe697ece9679aa283797
P2860
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.