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Q53081170-3014CF82-3C65-4D7C-A4D3-A467A8968FE1
Q53081170-3014CF82-3C65-4D7C-A4D3-A467A8968FE1
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Statement
http://www.wikidata.org/entity/statement/Q53081170-3014CF82-3C65-4D7C-A4D3-A467A8968FE1
Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.
P2860
Q53081170-3014CF82-3C65-4D7C-A4D3-A467A8968FE1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53081170-3014CF82-3C65-4D7C-A4D3-A467A8968FE1
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Statement
wasDerivedFrom
b05e31cb9b9242751e7ba82f62bbc75b4682a177
P2860
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.