five

the whole exome sequencing of a child with Witteveen-Kolk syndrome

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NIAID Data Ecosystem2026-05-02 收录
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https://www.ncbi.nlm.nih.gov/bioproject/PRJNA1235656
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A de novo heterozygous frameshift variant in SIN3A (chr15:75722702-75722703): NM_015477: c.16(exon2) _c.17(exon2)insG; p.D6fs*2(p. Asp6fsTer2) was identified in a child with Witteveen-Kolk syndrome by the whole exome sequencing
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2025-03-13
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