遇见数据集

Homo sapiens Exome

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NIAID Data Ecosystem2026-05-02 收录
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The whole exome sequencing results suggested compound heterozygous mutations of DIAPH1 (c.1051C>T, p.R351X,922; c.609delA, p.E203E fs*19), and were correlated with the complex syndrome.

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2025-02-19
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