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Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease
Hirschsprung disease is a birth defect characterized by complete absence of neuronal ganglion cells from a portion of the intestinal tract. To uncover genetic variants contributing to HSCR, we performed whole exome sequencing on seven members of an HSCR family. With the minor allele frequency (MAF)...
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| 出版年: | Front Genet |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6339922/ https://ncbi.nlm.nih.gov/pubmed/30693022 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00752 |
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