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Q52953394-1091717D-8AC0-4814-8881-2F8E1230E3AE
Q52953394-1091717D-8AC0-4814-8881-2F8E1230E3AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52953394-1091717D-8AC0-4814-8881-2F8E1230E3AE
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.
P2860
Q52953394-1091717D-8AC0-4814-8881-2F8E1230E3AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52953394-1091717D-8AC0-4814-8881-2F8E1230E3AE
rank
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type
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wasDerivedFrom
c6796da36eddee1636dd43522b139bf8dd95fd9a
P2860
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.