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Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes
Variants in 11 genes of the RAS/MAPK signaling pathway have been causally linked to the neuro-cardio-facio-cutaneous syndromes group (NCFCS). Recently, A2ML1 and RIT1 were also associated with these syndromes. Because of the genetic and clinical heterogeneity of NCFCS, it is challenging to define st...
Tallennettuna:
| Julkaisussa: | Eur J Hum Genet |
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| Päätekijät: | , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2015
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4326724/ https://ncbi.nlm.nih.gov/pubmed/24896146 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.97 |
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