Homo sapiens strain:PCNT Exome. Homo sapiens strain:PCNT
收藏NIAID Data Ecosystem2026-03-14 收录
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The whole exon found a new compound heterozygous mutation in the PCNT gene, namely, c.2317G > T (p.Glu773 *) and exon(23-25)del. Neither of these mutations has been previously reported. This compound heterozygous mutation is associated with microcephaly and bone dysplasia
创建时间：
2023-03-13
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