Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Br. J. Haematol.2019 May;185(3):627-630. doi:10.1111/bjh.15594. Epub 2018 Sep 10
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摘要
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基因功能
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原始数据
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文献解读
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