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Detection of the novel c.812A>C (p.Lys271Thr) mutation in KDF1 using whole exome sequencing.. KDF1 novel mutation

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NIAID Data Ecosystem2026-05-02 收录
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Following the birth of a child with natal teeth, whole exome sequencing was performed and it revealed the presence of the novel KDF1 mutation. The novel KDF1 mutation, c.812A>C (p.Lys271Thr), was identified.

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2025-02-09
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