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A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome.
Annals of Laboratory Medicine ( IF 4.9 ) Pub Date : 2021-05-01 , DOI: 10.3343/alm.2021.41.3.350 Cha Gon Lee 1 , Chang-Seok Ki 2
中文翻译:
顺式[5954C> G; 6314C> T; 6334C> T; 6843G> C]中的新型从头杂合ARID1A错义变异簇导致棺材-西里斯综合征。
更新日期:2021-05-01
Annals of Laboratory Medicine ( IF 4.9 ) Pub Date : 2021-05-01 , DOI: 10.3343/alm.2021.41.3.350 Cha Gon Lee 1 , Chang-Seok Ki 2
Affiliation
中文翻译:
顺式[5954C> G; 6314C> T; 6334C> T; 6843G> C]中的新型从头杂合ARID1A错义变异簇导致棺材-西里斯综合征。