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Q35177841-23B25853-4683-40B5-ACE3-F8D12C08A9FC
Q35177841-23B25853-4683-40B5-ACE3-F8D12C08A9FC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35177841-23B25853-4683-40B5-ACE3-F8D12C08A9FC
Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.
P2860
Q35177841-23B25853-4683-40B5-ACE3-F8D12C08A9FC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35177841-23B25853-4683-40B5-ACE3-F8D12C08A9FC
rank
NormalRank
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BestRank
Statement
wasDerivedFrom
91e7faf082a9a81af24d215c3bdb122bc2fc6c65
P2860
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.