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Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20.
J Med Genet. 2015.
PMID: 25795793
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
Steklov M, Pandolfi S, Baietti MF, Batiuk A, Carai P, Najm P, Zhang M, Jang H, Renzi F, Cai Y, Abbasi Asbagh L, Pastor T, De Troyer M, Simicek M, Radaelli E, Brems H, Legius E, Tavernier J, Gevaert K, Impens F, Messiaen L, Nussinov R, Heymans S, Eyckerman S, Sablina AA.
Steklov M, et al.
Science. 2018 Dec 7;362(6419):1177-1182. doi: 10.1126/science.aap7607. Epub 2018 Nov 15.
Science. 2018.
PMID: 30442762
Free PMC article.
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