关于 "ClinGen 脑畸形变异编辑专家小组：Lai等人撰写的 "AKT3、MTOR、PIK3CA和PIK3R2体细胞变异规则"。

IF 6.6 1区医学 Q1 GENETICS & HEREDITY Genetics in Medicine Pub Date : 2024-11-01 DOI:10.1016/j.gim.2024.101214

Edgar Horta , Eric Dahlen , Camille Engel , Juliette Piard , Christel Thauvin-Robinet , Laurence Faivre , Pierre Vabres , Paul Kuentz

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Correspondence on “The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2” by Lai et al

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来源期刊

Genetics in Medicine 医学-遗传学

CiteScore

15.20

自引率

6.80%

发文量

857

审稿时长

1.3 weeks

期刊介绍： Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.

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