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The whole-exon sequencing data of a Chinese Coffin-Siris syndrome patient

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NIAID Data Ecosystem2026-03-12 收录
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We identified a Chinese Coffin-Siris syndrome patient cayyring a novel missense variant of SMARCA4 through WGS and aimed at expanding the genetic and phenotypic spectrum of Coffin-Siris syndrome.

创建时间:
2020-12-01
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