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资源简介:
Exome sequencing for a Chinese girl with KBG syndrome
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创建时间:
2021-02-19
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Genotypes of SD patients analyzed in this study.
ND: not detectable; NA: not available. Novel mutations are indicated in bold, *RefSeq cDNA:NM_000521. For cDNA numbering +1 corresponds to the A of the first ATG translation initiation codon. RefSeq p
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