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Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family |
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期刊:American Journal of Medical Genetics 作者:Atta Ullah Khan; Ibrar Khan; Muhammad Ismail Khan; Muhammad Latif; Muhammad Imran Siddiqui; et al 出版日期:2022-06-15 |
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(2025-6-4)