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Pathogenic SATB2 Missense Variants Affecting P.gly392 Have Variable Functional Implications and Result in Diverse Clinical Phenotypes.

Joery den Hoed, Hirokazu Hashimoto, Mubeen Khan, Fleur Semmekrot,Katherine A. Bosanko,Chihiro Abe-Hatano,Eiji Nakagawa,Hanka Venselaar,Nada Quercia,Lauren Chad,Hiroshi Kurosaka, Stephane Rondeau,Simon E. Fisher,Shinya Yamamoto,Yuri A. Zarate

JOURNAL OF MEDICAL GENETICS（2024）

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关键词
Genetics, Medical,Genotyping Techniques,Loss of Function Mutation,Phenotype
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