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A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems
7월 2, 2024
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이전:
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature
다음:
Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene
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