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Q52137495-19413DE5-53CF-4E4B-9ED3-8BF825E1E4E8
Q52137495-19413DE5-53CF-4E4B-9ED3-8BF825E1E4E8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52137495-19413DE5-53CF-4E4B-9ED3-8BF825E1E4E8
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
P2860
Q52137495-19413DE5-53CF-4E4B-9ED3-8BF825E1E4E8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52137495-19413DE5-53CF-4E4B-9ED3-8BF825E1E4E8
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wasDerivedFrom
4b64f310852a5512153c7a2af7546655b567d95d
P2860
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.