SHINYA YAMAMOTO to Haploinsufficiency
This is a "connection" page, showing publications SHINYA YAMAMOTO has written about Haploinsufficiency.
Connection Strength
0.114
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Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes. J Med Genet. 2024 10 23; 61(11):1062-1067.
Score: 0.047
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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112.
Score: 0.036
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465.
Score: 0.031