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Q37718486-1FD528E7-1CF4-4533-9AB3-5B38FD7FC415
Q37718486-1FD528E7-1CF4-4533-9AB3-5B38FD7FC415
BestRank
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http://www.wikidata.org/entity/statement/Q37718486-1FD528E7-1CF4-4533-9AB3-5B38FD7FC415
Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
P2860
Q37718486-1FD528E7-1CF4-4533-9AB3-5B38FD7FC415
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37718486-1FD528E7-1CF4-4533-9AB3-5B38FD7FC415
rank
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type
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Statement
wasDerivedFrom
37310df772d4b0a634f5c286036c7415186625af
P2860
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.