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Q53081170-CB6439D6-C9DB-48D2-99B1-F108C08D6376
Q53081170-CB6439D6-C9DB-48D2-99B1-F108C08D6376
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Statement
http://www.wikidata.org/entity/statement/Q53081170-CB6439D6-C9DB-48D2-99B1-F108C08D6376
Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.
P2860
Q53081170-CB6439D6-C9DB-48D2-99B1-F108C08D6376
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53081170-CB6439D6-C9DB-48D2-99B1-F108C08D6376
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wasDerivedFrom
b05e31cb9b9242751e7ba82f62bbc75b4682a177
P2860
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.