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Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
Nephronophthisis-related ciliopathies (NPHP-RCs) are a group of inherited diseases that are associated with defects in primary cilium structure and function. To identify genes mutated in NPHP-RC, we performed homozygosity mapping and whole-exome sequencing for >100 individuals, some of whom were...
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| Vydáno v: | Am J Hum Genet |
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| Hlavní autoři: | , , , , , , , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6323550/ https://ncbi.nlm.nih.gov/pubmed/30609407 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.11.003 |
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