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Q47337489-7359F048-E2A9-486F-AF28-9640B58209EC
Q47337489-7359F048-E2A9-486F-AF28-9640B58209EC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47337489-7359F048-E2A9-486F-AF28-9640B58209EC
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
P2860
Q47337489-7359F048-E2A9-486F-AF28-9640B58209EC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47337489-7359F048-E2A9-486F-AF28-9640B58209EC
rank
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Statement
wasDerivedFrom
d57ba8ef6ed58884e76ab0905a226a0049c6f8c5
P2860
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism