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

被引:0
作者
Horta, Edgar [1 ,2 ]
Dahlen, Eric [1 ,2 ]
Engel, Camille [3 ,4 ]
Piard, Juliette [3 ,4 ]
Thauvin-Robinet, Christel [2 ,4 ,5 ]
Faivre, Laurence [2 ,4 ,6 ]
Vabres, Pierre [7 ,8 ]
Kuentz, Paul [1 ,2 ,4 ]
机构
[1] Univ Franche Comte, FHU TRANSLAD, CHU Besancon, Oncobiol Genet Bioinformat, Besancon, France
[2] Inst GIMI, Besancon, France
[3] Univ Franche Comte, Ctr Genet Humaine, CHU Besancon, Besancon, France
[4] Univ Bourgogne, INSERM GAD Genet Anomalies Dev UMR1231, Dijon, France
[5] CHU Dijon, FHU TRANSLAD & Inst GIMI, Unite Fonct Innovat diagnost Malad rares, Dijon, France
[6] CHU Dijon, FHU TRANSLAD & Inst GIMI, Ctr Genet & Ctr reference Anomalies Dev & Deficien, Dijon, France
[7] CHU Dijon, FHU TRANSLAD& Inst GIMI, Ctr Reference MAGEC Nord Malad Rares Peau & Muqueu, Dijon, France
[8] St Thomas Hosp, St Johns Inst Dermatol, Reference Ctr Rare Dis, London, England
关键词
D O I
10.1016/j.gim.2024.101214
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页数:2
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